|
biomarkers |
20 |
|
humans |
20 |
|
metabolomics |
18 |
|
burkholderia pseudomallei |
16 |
|
melioidosis |
16 |
|
diagnosis |
15 |
|
covid-19 |
14 |
|
sars-cov-2 |
14 |
|
thyroid function tests |
14 |
|
thyroid gland |
13 |
|
female |
12 |
|
plasma |
12 |
|
mutation |
11 |
|
thyroiditis |
11 |
|
hong kong |
10 |
|
hong kong chinese |
10 |
|
specific |
10 |
|
euthyroid sick syndromes |
9 |
|
male |
9 |
|
mycobacterium tuberculosis |
9 |
|
asian continental ancestry group - genetics |
8 |
|
autoimmunity |
8 |
|
bacteremia |
8 |
|
biomarker |
8 |
|
child |
8 |
|
child, preschool |
8 |
|
dna mutational analysis |
8 |
|
glycolipids |
8 |
|
interferon beta-1b |
8 |
|
lipid |
8 |
|
metabolomic |
8 |
|
organic acid |
8 |
|
phospholipids |
8 |
|
pneumonia |
8 |
|
sphingolipids |
8 |
|
adult |
7 |
|
age‐specific reference range |
7 |
|
anti‐müllerian hormone |
7 |
|
aspergillus |
7 |
|
autoantibodies |
7 |
|
automated chemiluminescence assay |
7 |
|
chinese women |
7 |
|
polycystic ovary syndrome |
7 |
|
post–acute covid-19 syndrome |
7 |
|
prognosis |
7 |
|
adolescent |
6 |
|
amino acid substitution |
6 |
|
asian continental ancestry group |
6 |
|
aspergillus hongkongensis sp. nov. |
6 |
|
ceruloplasmin - metabolism |
6 |
|
infant |
6 |
|
laboratory |
6 |
|
maldi-tof ms |
6 |
|
metabolic fingerprinting |
6 |
|
metabolites |
6 |
|
onychomycosis |
6 |
|
sequencing |
6 |
|
tetrapeptide |
6 |
|
acetic acid |
5 |
|
aged |
5 |
|
alanine transaminase - blood |
5 |
|
amyloidosis, familial - ethnology - genetics - pathology |
5 |
|
bacteriuria |
5 |
|
copper/urine |
5 |
|
dna mutational analysis - methods |
5 |
|
familial transthyretin amyloidosis |
5 |
|
food contamination |
5 |
|
genotype |
5 |
|
hepatolenticular degeneration - complications - diagnosis - drug therapy - genetics - metabolism |
5 |
|
kidney calculi - etiology - urine |
5 |
|
middle aged |
5 |
|
nmr-based urinalysis |
5 |
|
prealbumin - genetics |
5 |
|
sensitivity and specificity |
5 |
|
spectrometry, mass, matrix-assisted laser desorption-ionization |
5 |
|
triazines - analysis - chemistry - urine |
5 |
|
trimethylamine |
5 |
|
ttr gene |
5 |
|
urinary tract infection |
5 |
|
wilson disease |
5 |
|
age of onset |
4 |
|
atp7b |
4 |
|
base sequence |
4 |
|
bone neoplasms - complications - diagnosis |
4 |
|
chromosomal proteins, non-histone |
4 |
|
co-metabolites |
4 |
|
cyanuric acid |
4 |
|
dna-binding proteins - genetics |
4 |
|
dopa-responsive dystonia |
4 |
|
escherichia coli |
4 |
|
gene frequency |
4 |
|
genetic heterogeneity |
4 |
|
giant cell tumor of bone - complications - diagnosis |
4 |
|
haplotype |
4 |
|
haplotypes |
4 |
|
hepatolenticular degeneration - genetics |
4 |
|
hypophosphatemia - etiology |
4 |
|
kidney calculi - epidemiology - metabolism - urine |
4 |
|
linkage disequilibrium |
4 |
|
melamine |
4 |
|
melamine-associated renal stone disease |
4 |
|
nmr spectroscopy |
4 |
|
novel mutation |
4 |
|
osteomalacia - etiology |
4 |
|
p.r778l founder mutation |
4 |
|
quantitative metabolomics |
4 |
|
repressor proteins |
4 |
|
soft tissue neoplasms - complications - diagnosis |
4 |
|
treatment outcome |
4 |
|
triazines - administration & dosage - metabolism - urine |
4 |
|
tyrosine hydroxylase deficiency |
4 |
|
administration, oral |
3 |
|
antineoplastic combined chemotherapy protocols - therapeutic use |
3 |
|
arsenicals - administration & dosage |
3 |
|
carbohydrate |
3 |
|
cerebrospinal fluid neurotransmitters |
3 |
|
children |
3 |
|
chinese |
3 |
|
csf neurotransmitters |
3 |
|
deficiency diseases - drug therapy |
3 |
|
deranged liver function |
3 |
|
dopamine agents - therapeutic use |
3 |
|
dystonia - genetics |
3 |
|
frontal lobe - pathology |
3 |
|
galactorrhea - genetics |
3 |
|
glycemic index |
3 |
|
homovanillic acid |
3 |
|
homovanillic acid - metabolism |
3 |
|
hypoceruloplasminemia |
3 |
|
infant, newborn |
3 |
|
leukemia, promyelocytic, acute - complications - drug therapy |
3 |
|
levodopa - therapeutic use |
3 |
|
magnetic resonance imaging |
3 |
|
magnetic resonance spectroscopy - diagnostic use |
3 |
|
medical sciences |
3 |
|
methyl-cpg-binding protein 2 |
3 |
|
mitochondrial diseases |
3 |
|
muscle hypotonia - genetics |
3 |
|
mutational analysis |
3 |
|
nasopharyngeal carcinoma |
3 |
|
neurotoxicity |
3 |
|
newborn screening |
3 |
|
oxides - administration & dosage |
3 |
|
parkinsonian disorders - drug therapy - genetics |
3 |
|
pedigree |
3 |
|
periaqueductal gray - pathology |
3 |
|
polymorphism, genetic |
3 |
|
prevalence |
3 |
|
remission induction |
3 |
|
rett syndrome - diagnosis - genetics |
3 |
|
salvage therapy |
3 |
|
selegiline - therapeutic use |
3 |
|
silver poisoning / intoxication |
3 |
|
tretinoin - therapeutic use |
3 |
|
tyrosine 3-monooxygenase - deficiency - genetics |
3 |
|
6-pyruvoyl-tetrahydropterin synthase deficiency |
2 |
|
acids - urine |
2 |
|
acute disease |
2 |
|
acute leukemia |
2 |
|
adenocarcinoma - chemically induced |
2 |
|
adenosinetriphosphatase/genetics |
2 |
|
aged, 80 and over |
2 |
|
alanine - genetics |
2 |
|
alkaline phosphatase |
2 |
|
alleles |
2 |
|
amino acids - blood |
2 |
|
amyloid |
2 |
|
amyloid neuropathies - genetics |
2 |
|
antineoplastic agents - administration & dosage - blood - therapeutic use |
2 |
|
area under curve |
2 |
|
arsenic trioxide |
2 |
|
arsenicals - administration & dosage - blood - therapeutic use |
2 |
|
arsenicals - adverse effects - therapeutic use |
2 |
|
asian continental ancestry group -genetics |
2 |
|
autism spectrum disorders |
2 |
|
autistic disorder - genetics |
2 |
|
autoantibodies/genetics/immunology |
2 |
|
avpr2 |
2 |
|
beta-ketothiolase deficiency |
2 |
|
biochemical genetics |
2 |
|
biological availability |
2 |
|
carnitine - analogs & derivatives - blood |
2 |
|
carnitine - analogs & derivatives - metabolism |
2 |
|
carnitine o-palmitoyltransferase - genetics - metabolism |
2 |
|
cdc73 mutations |
2 |
|
ceruloplasmin |
2 |
|
chemical pathology |
2 |
|
cholesterol biosynthesis |
2 |
|
chronic hepatitis b |
2 |
|
clinical whole-exome sequencing |
2 |
|
codon, nonsense |
2 |
|
colonic carcinoma |
2 |
|
colonic neoplasms - chemically induced |
2 |
|
compound heterozygous mutation |
2 |
|
copper/metabolism |
2 |
|
coxsackie virus |
2 |
|
developmental quotient |
2 |
|
diabetes mellitus, type 2 - genetics |
2 |
|
diagnostic errors |
2 |
|
disease progression |
2 |
|
dna, mitochondrial - chemistry - genetics |
2 |
|
dravet syndrome |
2 |
|
dual molecular diagnoses |
2 |
|
dystonia/diagnosis/genetics/physiopathology |
2 |
|
early infantile epileptic encephalopathy |
2 |
|
encephalitis, viral - complications - enzymology - genetics |
2 |
|
enzyme stability |
2 |
|
epilepsies |
2 |
|
expanded newborn screening |
2 |
|
familial amyloidotic polyneuropathy |
2 |
|
family health |
2 |
|
fatal outcome |
2 |
|
fatty acids |
2 |
|
febrile |
2 |
|
functional polymorphism |
2 |
|
gaba agonists/therapeutic use |
2 |
|
gamma-aminobutyric acid/metabolism |
2 |
|
gene expression profiling |
2 |
|
gene expression regulation, neoplastic |
2 |
|
gene silencing |
2 |
|
genetic predisposition to disease - genetics |
2 |
|
genetic predisposition to disease/*genetics |
2 |
|
genetic screening |
2 |
|
genetic testing |
2 |
|
glucuronosyltransferase - genetics |
2 |
|
glutamate decarboxylase/immunology |
2 |
|
glycemic load |
2 |
|
gnao1 |
2 |
|
growth inhibitors - adverse effects - therapeutic use |
2 |
|
h1n1 human swine influenza |
2 |
|
health knowledge, attitudes, practice |
2 |
|
hepatolenticular degeneration |
2 |
|
hepatolenticular degeneration - blood - diagnosis - genetics |
2 |
|
hereditary hyperparathyroidism |
2 |
|
heterozygote |
2 |
|
hong kong - epidemiology |
2 |
|
hong-kong chinese |
2 |
|
host genetic risk factor |
2 |
|
hyperbilirubinemia - chemically induced - genetics - metabolism |
2 |
|
hyperparathyroidism- jaw tumor syndrome |
2 |
|
hyperphenylalaninemia |
2 |
|
hypophosphatasia |
2 |
|
id2 |
2 |
|
inborn errors of metabolism |
2 |
|
influenza, human - complications |
2 |
|
influenza-associated encephalopathy |
2 |
|
infusions, intravenous |
2 |
|
inhibin-beta subunits - genetics - metabolism |
2 |
|
inhibitor of differentiation protein 2 - genetics - metabolism |
2 |
|
isomer enumeration |
2 |
|
leukemia, myelogenous, chronic, bcr-abl positive - drug therapy - genetics - metabolism |
2 |
|
leukemia, myeloid - blood - drug therapy |
2 |
|
leukemia, promyelocytic, acute - drug therapy |
2 |
|
lipoproteins |
2 |
|
liver diseases |
2 |
|
mass spectrometry |
2 |
|
metabolism, inborn errors - blood - diagnosis - epidemiology - urine |
2 |
|
metabolism, inborn errors - diagnosis |
2 |
|
metabolomic profiling |
2 |
|
microarray |
2 |
|
models, molecular |
2 |
|
molecular chaperones/*genetics |
2 |
|
molecular sequence data |
2 |
|
muscle spasticity/diagnosis/genetics/physiopathology |
2 |
|
muscle, skeletal/innervation/*physiopathology |
2 |
|
mutation/*genetics |
2 |
|
myoclonic |
2 |
|
nasopharyngeal neoplasms - chemically induced |
2 |
|
nasopharyngeal neoplasms - genetics - metabolism |
2 |
|
neo1 |
2 |
|
neonatal screening - methods |
2 |
|
neonatal screening - organization and administration |
2 |
|
neoplasms - chemically induced |
2 |
|
nerve tissue proteins |
2 |
|
neuropathy |
2 |
|
novel deletion |
2 |
|
oligonucleotide array sequence analysis |
2 |
|
ophthalmoparesis |
2 |
|
oral bioavailability |
2 |
|
oxides - administration & dosage - blood - therapeutic use |
2 |
|
oxides - adverse effects - therapeutic use |
2 |
|
parathyroid carcinoma |
2 |
|
parathyroid tumor |
2 |
|
parental attitudes |
2 |
|
parents - psychology |
2 |
|
perinatal lethal form of hypophosphatasia |
2 |
|
phenylketonuria |
2 |
|
plasmapheresis |
2 |
|
pleural effusions |
2 |
|
pleural pore-size |
2 |
|
point mutation |
2 |
|
polg |
2 |
|
polymerase chain reaction |
2 |
|
polymerase chain reaction - methods |
2 |
|
polymorphism, restriction fragment length |
2 |
|
polyneuropathies - genetics |
2 |
|
preexercise diet |
2 |
|
protein-tyrosine kinases - antagonists and inhibitors |
2 |
|
pyrimidines - adverse effects - pharmacokinetics |
2 |
|
rassf1a |
2 |
|
reverse transcriptase polymerase chain reaction |
2 |
|
risk factors |
2 |
|
salivary diagnostic |
2 |
|
second generation |
2 |
|
seizures |
2 |
|
sensory ataxia |
2 |
|
sequence analysis, dna |
2 |
|
signal transduction |
2 |
|
simvastatin treatment |
2 |
|
stiff-person syndrome/diagnosis/*genetics/*physiopathology |
2 |
|
stroke |
2 |
|
tandem mass spectrometry |
2 |
|
temperature |
2 |
|
thermolabile carnitine palmitoyltransferase ii |
2 |
|
time factors |
2 |
|
total sterol |
2 |
|
transfection |
2 |
|
transthyretin gene |
2 |
|
tsalp gene |
2 |
|
tumor cells, cultured |
2 |
|
tumor markers, biological - genetics - metabolism |
2 |
|
tumor suppressor |
2 |
|
tumor suppressor proteins - antagonists & inhibitors - genetics - metabolism |
2 |
|
valine - genetics |
2 |
|
vhl gene |
2 |
|
vhl mutations |
2 |
|
viral infection-associated encephalopathy |
2 |
|
von hippel-lindau disease - genetics |
2 |
|
von hippel-lindau syndrome |
2 |
|
von hippel-lindau tumor suppressor protein - genetics |
2 |
|
x-linked nephrogenic diabetes insipidus |
2 |
|
β-ureidopropionase deficiency |
2 |
|
*mutation |
1 |
|
16s ribosomal rna |
1 |
|
17α-hydroxylase deficiency |
1 |
|
3' untranslated regions - genetics |
1 |
|
3-hydroxybutyric acid - blood |
1 |
|
3-iodobenzylguanidine - diagnostic use |
1 |
|
5-methyltetrahydrofolate |
1 |
|
5-mthf |
1 |
|
aadc deficiency |
1 |
|
abcb11 gene |
1 |
|
abcc8 |
1 |
|
abcg5 |
1 |
|
abcg8 |
1 |
|
abdominal neoplasms - complications - diagnosis - drug therapy - surgery |
1 |
|
abortion, eugenic |
1 |
|
acetylcholinesterase - deficiency - genetics |
1 |
|
acidosis - etiology |
1 |
|
acidosis, lactic - blood - diagnosis - etiology |
1 |
|
acute wilsonian liver failure |
1 |
|
acyl-coa dehydrogenase, long-chain - blood - deficiency - genetics |
1 |
|
adenine |
1 |
|
adenosine deaminase |
1 |
|
adenosine deaminase - analysis - metabolism |
1 |
|
adenosine triphosphatases - genetics |
1 |
|
adenovirus e1a proteins - genetics - physiology |
1 |
|
adrenal gland neoplasms - diagnosis - secretion |
1 |
|
adrenal gland neoplasms - genetics |
1 |
|
adrenal hyperplasia, congenital |
1 |
|
adrenal insufficiency - congenital - genetics |
1 |
|
agxt |
1 |
|
alanine transaminase |
1 |
|
alanine transaminase - deficiency - genetics - metabolism |
1 |
|
alanine/urine |
1 |
|
alcohol oxidoreductases - genetics |
1 |
|
alcoholism - complications |
1 |
|
algorithms |
1 |
|
alkyl 1,1,1-triradicals |
1 |
|
alkylcyclobutadienes |
1 |
|
allan-herndon-dudley syndrome |
1 |
|
allele |
1 |
|
allele dropout |
1 |
|
allelic imbalance |
1 |
|
allelic imbalance - genetics |
1 |
|
allosteric site - genetics |
1 |
|
alpha polypeptide (etfa) |
1 |
|
alpha-glucosidases - genetics - metabolism |
1 |
|
alpha-n-acetylglucosaminidase |
1 |
|
alternative splicing - genetics |
1 |
|
amidohydrolases/deficiency |
1 |
|
amino acid metabolism, inborn errors - complications - genetics |
1 |
|
amino acid metabolism, inborn errors - diagnosis - urine |
1 |
|
amino acid substitution - genetics |
1 |
|
amino acid transport systems, basic - genetics |
1 |
|
amino acid transport systems, neutral - genetics |
1 |
|
aminopeptidases |
1 |
|
amphipathic helix |
1 |
|
analytical chemistry |
1 |
|
anemia, sideroblastic - complications |
1 |
|
animals |
1 |
|
antibodies, viral - isolation & purification |
1 |
|
anticonvulsants - adverse effects |
1 |
|
anticonvulsants - therapeutic use |
1 |
|
antifungal agents - adverse effects |
1 |
|
antigens, cd34 - blood |
1 |
|
antiporters |
1 |
|
antiporters - genetics |
1 |
|
aorta - chemistry - metabolism |
1 |
|
aortic diseases - genetics |
1 |
|
apnea |
1 |
|
apolipoprotein c-ii |
1 |
|
apolipoproteins c - deficiency - genetics |
1 |
|
apparent homozygosity |
1 |
|
arms |
1 |
|
aromatic l-amino acid decarboxylase deficiency |
1 |
|
aromatic-l-amino-acid decarboxylases - deficiency - urine |
1 |
|
arsb gene |
1 |
|
arthritis, gouty - diagnosis - enzymology - genetics |
1 |
|
asian continental ancestry group - ethnology |
1 |
|
asian continental ancestry group - ethnology - genetics |
1 |
|
atp-binding cassette transporters - genetics |
1 |
|
atp2c1 |
1 |
|
atp7b gene |
1 |
|
autoanalysis |
1 |
|
autoanalysis - instrumentation |
1 |
|
automation |
1 |
|
azacitidine - pharmacology |
1 |
|
basal cell carcinoma |
1 |
|
basal cell nevus syndrome |
1 |
|
basal cell nevus syndrome - genetics |
1 |
|
bence jones protein - urine |
1 |
|
benign recurrent intrahepatic cholestasis |
1 |
|
bile pigments - analysis |
1 |
|
biopsy |
1 |
|
biosensing techniques - standards |
1 |
|
biradicals |
1 |
|
blood glucose - metabolism |
1 |
|
body fluids - enzymology - microbiology |
1 |
|
bone marrow cells - pathology |
1 |
|
braf |
1 |
|
brain - blood supply - pathology |
1 |
|
brain - pathology |
1 |
|
brain diseases - blood - diagnosis - etiology |
1 |
|
brazil |
1 |
|
bric2 |
1 |
|
bronchial neoplasms - genetics |
1 |
|
butyrylcholinesterase |
1 |
|
butyrylcholinesterase - deficiency - genetics |
1 |
|
calcitriol - therapeutic use |
1 |
|
calcium-binding proteins - genetics - metabolism |
1 |
|
calcium-sensing |
1 |
|
calcium-sensing receptor |
1 |
|
calcium-transporting atpases - genetics |
1 |
|
carbidopa - therapeutic use |
1 |
|
carcinoid tumor - genetics |
1 |
|
carcinoma - blood - diagnosis - genetics - mortality |
1 |
|
carcinoma, basal cell - genetics |
1 |
|
carcinoma, non-small-cell lung - diagnosis - secondary - secretion |
1 |
|
carcinoma, renal cell - genetics |
1 |
|
cardiac ryanodine receptor |
1 |
|
cardiomyopathy, dilated - genetics |
1 |
|
cardiomyopathy, hypertrophic - genetics |
1 |
|
cardiovascular system - metabolism |
1 |
|
carnitine acyltransferases - deficiency - genetics |
1 |
|
carnitine palmitoyltransferase ii |
1 |
|
carrier proteins - genetics |
1 |
|
carrier state - virology |
1 |
|
case report |
1 |
|
case-control studies |
1 |
|
casr |
1 |
|
catalysis |
1 |
|
cataract |
1 |
|
catecholaminergic polymorphic ventricular tachycardia |
1 |
|
cation transport proteins - genetics |
1 |
|
cdc25b gene |
1 |
|
cdna microarray |
1 |
|
cell cycle |
1 |
|
cell division - genetics |
1 |
|
cell line |
1 |
|
cell line, tumor |
1 |
|
cell proliferation - drug effects |
1 |
|
cells, cultured |
1 |
|
centrosome |
1 |
|
cercopithecus aethiops |
1 |
|
cerebral folate |
1 |
|
cerebral folate deficiency |
1 |
|
cerebral infarction - genetics - pathology |
1 |
|
ceruloplasmin - analysis |
1 |
|
ceruloplasmin - analysis - deficiency - metabolism |
1 |
|
ceruloplasmin oxidase activity |
1 |
|
cervical intraepithelial neoplasia - epidemiology - virology |
1 |
|
cheek |
1 |
|
chemistry |
1 |
|
china |
1 |
|
china - ethnology |
1 |
|
chinese multiple myeloma |
1 |
|
chloride channels - genetics |
1 |
|
cholestasis, intrahepatic - genetics - metabolism |
1 |
|
choline acetyltransferase |
1 |
|
choline o-acetyltransferase - genetics |
1 |
|
chorionic villi sampling |
1 |
|
chromatography |
1 |
|
chromatography, high pressure liquid |
1 |
|
chromatography, high pressure liquid - methods |
1 |
|
chromatography, thin layer |
1 |
|
chromosome 12 |
1 |
|
chromosome 3p21.3 |
1 |
|
chromosome aberrations - genetics |
1 |
|
chromosome disorders |
1 |
|
chromosome mapping |
1 |
|
chromosome mapping - methods |
1 |
|
chromosomes, human - genetics |
1 |
|
chromosomes, human, pair 3 - genetics |
1 |
|
chromosomes, human, pair 7 |
1 |
|
chromosomes, human, x - genetics |
1 |
|
chylomicronemia syndrome |
1 |
|
circadian rhythm - physiology |
1 |
|
circulating fluorescent red cells |
1 |
|
clonazepam - therapeutic use |
1 |
|
codon |
1 |
|
coenzymes - deficiency - genetics |
1 |
|
collaboration model |
1 |
|
collagen - genetics |
1 |
|
colony-forming units assay |
1 |
|
common mutation |
1 |
|
communicable diseases, emerging - epidemiology - physiopathology - virology |
1 |
|
computer peripherals |
1 |
|
congenital myasthenia gravis |
1 |
|
consanguinity |
1 |
|
copper |
1 |
|
copper - blood - metabolism - urine |
1 |
|
coq4 |
1 |
|
cord blood transplant |
1 |
|
coronary artery disease - genetics - physiopathology |
1 |
|
coronavirus - isolation & purification |
1 |
|
cos cells - chemistry - metabolism |
1 |
|
cost-benefit analysis |
1 |
|
cost-effective analysis |
1 |
|
creatinine - blood |
1 |
|
cross reactions |
1 |
|
cross-over studies |
1 |
|
csf neurotransmitter |
1 |
|
cyp17 gene |
1 |
|
cyp2u1 |
1 |
|
cysteine - genetics |
1 |
|
cystine - metabolism |
1 |
|
cystinuria |
1 |
|
cystinuria - genetics |
1 |
|
cytochrome p450c17 |
1 |
|
cytogenetic analysis - methods |
1 |
|
cytokines - blood |
1 |
|
cytosine |
1 |
|
databases, nucleic acid |
1 |
|
databases, protein |
1 |
|
dax-1 orphan nuclear receptor |
1 |
|
de novo mutation |
1 |
|
death, sudden, cardiac - etiology |
1 |
|
denaturing high performance liquid chromatography (dhplc) |
1 |
|
denaturing high-performance liquid chromatography |
1 |
|
deoxyribonucleases, type ii site-specific |
1 |
|
development |
1 |
|
developmental delay |
1 |
|
developmental disabilities - diagnosis - genetics |
1 |
|
diabetes mellitus - congenital - drug therapy - genetics |
1 |
|
diabetes mellitus - genetics - pathology |
1 |
|
diabetes mellitus, type 2 - blood - complications - enzymology - genetics |
1 |
|
diabetes mellitus, type 2 - complications - genetics |
1 |
|
diabetic ketoacidosis - diagnosis |
1 |
|
diagnosis, differential |
1 |
|
diagnostic algorithm |
1 |
|
diagnostic pitfalls |
1 |
|
dietary carbohydrates - administration & dosage - classification - metabolism |
1 |
|
dietary carbohydrates - administration & dosage - metabolism |
1 |
|
dietary carbohydrates - administration & dosage - pharmacology |
1 |
|
digenic |
1 |
|
dihydrouracil dehydrogenase (nadp) |
1 |
|
dipeptidyl-peptidases and tripeptidyl-peptidases |
1 |
|
disease outbreaks |
1 |
|
disorders of sex development - genetics |
1 |
|
dissection microscopy |
1 |
|
dna |
1 |
|
dna - analysis |
1 |
|
dna - chemistry - genetics |
1 |
|
dna - genetics |
1 |
|
dna methylation |
1 |
|
dna mutational analysis - economics - methods |
1 |
|
dna primers |
1 |
|
dna, complementary |
1 |
|
dna, complementary - analysis - genetics |
1 |
|
dna, complementary - genetics |
1 |
|
dna, mitochondrial - analysis |
1 |
|
dna, mitochondrial - analysis - genetics |
1 |
|
dna, mitochondrial - genetics |
1 |
|
dolphins |
1 |
|
dopamine - secretion |
1 |
|
drug combinations |
1 |
|
dtymk |
1 |
|
dystonia |
1 |
|
dystonia - diagnosis - genetics |
1 |
|
dystonia musculorum deformans/drug therapy/*genetics/radionuclide imaging |
1 |
|
dystonic disorders - diagnosis - drug therapy - genetics |
1 |
|
dystroglycans |
1 |
|
dyt1 gene |
1 |
|
e3 ubiquitin ligase |
1 |
|
early phase clinical study |
1 |
|
electrolytes - administration & dosage - metabolism |
1 |
|
electromyography |
1 |
|
electron transport complex iv - drug effects |
1 |
|
electron-transfer-flavoprotein |
1 |
|
electrophoresis |
1 |
|
electrophoresis - methods |
1 |
|
electrophoresis, capillary |
1 |
|
electrophoresis, polyacrylamide gel |
1 |
|
encephalomalacia - enzymology - etiology - genetics - pathology |
1 |
|
encephalopathy |
1 |
|
endopeptidases |
1 |
|
endurance performance |
1 |
|
endurance running |
1 |
|
energy intake - physiology |
1 |
|
energy metabolism |
1 |
|
enzyme activation - genetics |
1 |
|
ephedrine - therapeutic use |
1 |
|
epilepsy |
1 |
|
epinephrine - urine |
1 |
|
epithelial cells - ultrastructure |
1 |
|
equivalence |
1 |
|
erythrocytes - enzymology |
1 |
|
erythrocytes - metabolism |
1 |
|
erythrocytes - pathology |
1 |
|
ethnic groups - genetics |
1 |
|
exercise - physiology |
1 |
|
exercise test |
1 |
|
exonic splicing variant |
1 |
|
exons |
1 |
|
exons - genetics |
1 |
|
expressed sequence tags |
1 |
|
exudate |
1 |
|
exudates and transudates - chemistry |
1 |
|
exudates and transudates - chemistry - cytology |
1 |
|
fabry disease |
1 |
|
fabry disease - complications - genetics - pathology |
1 |
|
fah gene |
1 |
|
false negative reactions |
1 |
|
false positive reactions |
1 |
|
familial benign chronic pemphigus |
1 |
|
familial hypocalciuric hypercalcemia |
1 |
|
familial risk |
1 |
|
family |
1 |
|
feces - chemistry |
1 |
|
feeding behavior - physiology |
1 |
|
feeding patterns |
1 |
|
ferenci score |
1 |
|
ferrochelatase - blood - genetics |
1 |
|
ferrochelatase - genetics |
1 |
|
fetal blood |
1 |
|
fetal heart - chemistry - metabolism |
1 |
|
fibrinogen - immunology |
1 |
|
fibroblasts - enzymology |
1 |
|
filamin c |
1 |
|
filaminopathy |
1 |
|
filgrastim - therapeutic use |
1 |
|
flavoproteins |
1 |
|
fluorescence |
1 |
|
fluorescent dyes |
1 |
|
fluorescent dyes - metabolism |
1 |
|
fluorouracil |
1 |
|
folinic acid |
1 |
|
follow-up studies |
1 |
|
founder and drift hypothesis |
1 |
|
founder effect |
1 |
|
frameshift mutation |
1 |
|
free fatty acids |
1 |
|
g-csf |
1 |
|
g6pt1 |
1 |
|
gait - drug effects |
1 |
|
galactorrhea |
1 |
|
galactorrhea - diagnosis - genetics |
1 |
|
galactosemias - diagnosis - genetics |
1 |
|
gas chromatography-mass spectrometry |
1 |
|
gene duplication |
1 |
|
gene expression |
1 |
|
gene expression profiling - methods - statistics & numerical data |
1 |
|
gene expression regulation |
1 |
|
gene expression regulation - genetics |
1 |
|
gene library |
1 |
|
genes - genetics |
1 |
|
genes, dominant - genetics |
1 |
|
genes, tumor suppressor |
1 |
|
genetic counseling |
1 |
|
genetic diseases, inborn - diagnosis |
1 |
|
genetic diseases, inborn - diagnosis - genetics |
1 |
|
genetic linkage |
1 |
|
genetic markers |
1 |
|
genetic predisposition to disease |
1 |
|
genetic predisposition to disease - ethnology - genetics |
1 |
|
genetic testing - methods |
1 |
|
genetic variation |
1 |
|
genetics, medical - methods |
1 |
|
genetics, population |
1 |
|
genome, human |
1 |
|
genome, human - genetics |
1 |
|
genome-wide association study - methods |
1 |
|
genomic medicine |
1 |
|
genomics |
1 |
|
genomics - methods |
1 |
|
genotyping microarray |
1 |
|
germ-line mutation |
1 |
|
globins - analysis - genetics |
1 |
|
glra1 |
1 |
|
glucose |
1 |
|
glucose-6-phosphatase - genetics |
1 |
|
glucose-6-phosphatase gene |
1 |
|
glucose-6-phosphate |
1 |
|
glutamate dehydrogenase - genetics |
1 |
|
glutaric aciduria type ii |
1 |
|
glyburide - therapeutic use |
1 |
|
glycaemic index |
1 |
|
glycaemic load |
1 |
|
glycine - genetics |
1 |
|
glycogen debranching enzyme |
1 |
|
glycogen storage disease |
1 |
|
glycogen storage disease - enzymology - genetics |
1 |
|
glycogen storage disease 1a |
1 |
|
glycogen storage disease type 1b |
1 |
|
glycogen storage disease type i - diagnosis - drug therapy - genetics |
1 |
|
glycogen storage disease type i - diagnosis - genetics |
1 |
|
glycogen storage disease type i - enzymology - genetics |
1 |
|
glycogen storage disease type i - epidemiology - ethnology - genetics |
1 |
|
glycogen storage disease type i - genetics |
1 |
|
glycogen storage disease type ib |
1 |
|
glycogen storage disease type ii - diagnosis - genetics |
1 |
|
glycogen storage disease type iii |
1 |
|
glyoxylate reductase/hydroxypyruvate reductase (grhpr) gene |
1 |
|
graft survival |
1 |
|
gsd 1b |
1 |
|
gtp cyclohydrolase - genetics |
1 |
|
guanine |
1 |
|
hailey-hailey disease |
1 |
|
hair follicle - chemistry |
1 |
|
hairpin formation |
1 |
|
hallervorden-spatz disease |
1 |
|
hallervorden-spatz syndrome |
1 |
|
head and neck neoplasms - genetics |
1 |
|
hedgehog |
1 |
|
hedgehog proteins |
1 |
|
hematopoietic stem cell transplantation - methods |
1 |
|
hepatic copper quantitation |
1 |
|
hepatolenticular degeneration - complications - diagnosis - genetics |
1 |
|
hepatolenticular degeneration - diagnosis - genetics |
1 |
|
hepatolenticular degeneration - diagnosis - genetics - therapy |
1 |
|
hepatolenticular degeneration -- china -- hong kong. |
1 |
|
herpesvirus 4, human - genetics - metabolism |
1 |
|
herpesvirus 7, human - genetics |
1 |
|
heterozygote detection |
1 |
|
high-density single-nucleotide polymorphism microarrays |
1 |
|
hla antigens - genetics |
1 |
|
hla susceptibility |
1 |
|
homocysteine |
1 |
|
homocysteine - blood |
1 |
|
homocystinuria - diagnosis - genetics |
1 |
|
homozygosity mapping |
1 |
|
homozygote |
1 |
|
homozygous variegate porphyria |
1 |
|
hong kong - ethnology |
1 |
|
human genome project |
1 |
|
hydrocarbons, chlorinated - blood - chemistry |
1 |
|
hydrops fetalis |
1 |
|
hydrops fetalis - etiology |
1 |
|
hydroxymethylbilane synthase - blood |
1 |
|
hydroxymethylbilane synthase - genetics |
1 |
|
hydroxypyruvate reductase |
1 |
|
hyperammonaemia |
1 |
|
hyperammonemia - etiology - genetics |
1 |
|
hypercalcemia |
1 |
|
hypercalcemia - genetics |
1 |
|
hyperekplexia |
1 |
|
hyperglycemia - genetics |
1 |
|
hyperinsulinism |
1 |
|
hyperinsulinism - etiology - genetics |
1 |
|
hyperlipoproteinemia type i - blood - enzymology - genetics |
1 |
|
hyperlipoproteinemia type i - enzymology - genetics |
1 |
|
hyperoxaluria - genetics |
1 |
|
hyperparathyroidism |
1 |
|
hyperparathyroidism - genetics |
1 |
|
hyperprolactinemia |
1 |
|
hyperprolactinemia - diagnosis - genetics |
1 |
|
hypertension - etiology |
1 |
|
hypertriglyceridemia - blood - complications - enzymology - genetics |
1 |
|
hypertriglyceridemia - blood - genetics |
1 |
|
hypertriglyceridemia - complications - enzymology - genetics |
1 |
|
hypocalcemia |
1 |
|
hypocalcemia - drug therapy - etiology - genetics |
1 |
|
hypoglycaemia |
1 |
|
hypoglycemic agents - therapeutic use |
1 |
|
hypoparathyroidism |
1 |
|
hypoxanthine |
1 |
|
hypoxanthine phosphoribosyltransferase - genetics |
1 |
|
hypoxic-ischemic injury |
1 |
|
iduronate sulfatase - chemistry - genetics - metabolism |
1 |
|
iduronate-2-sulfatase mutant |
1 |
|
immunoassay |
1 |
|
immunoglobulin d - analysis |
1 |
|
immunoglobulin e - blood |
1 |
|
immunoglobulin epsilon-chains - immunology |
1 |
|
indel decryption |
1 |
|
indel mutation |
1 |
|
indels |
1 |
|
infant, newborn, diseases - enzymology - etiology - genetics - pathology |
1 |
|
inherited metabolic diseases |
1 |
|
inpatients |
1 |
|
insulin |
1 |
|
insulin - blood |
1 |
|
insulin - therapeutic use |
1 |
|
intellectual disability - genetics |
1 |
|
intellectual disability - genetics - physiopathology |
1 |
|
intracellular signaling peptides and proteins |
1 |
|
introns |
1 |
|
iodine radioisotopes - diagnostic use |
1 |
|
ion channels - physiology |
1 |
|
iron/metabolism |
1 |
|
islets of langerhans - metabolism - pathology |
1 |
|
isolated persistent elevation |
1 |
|
isolated sulfite oxidase deficiency |
1 |
|
isotopes |
1 |
|
isovaleryl-coa dehydrogenase |
1 |
|
italy |
1 |
|
japan |
1 |
|
japan - epidemiology |
1 |
|
kcnj11 |
1 |
|
ketoconazole |
1 |
|
ketoconazole - adverse effects |
1 |
|
ketosis - etiology |
1 |
|
kidney calculi - blood - genetics |
1 |
|
kidney calculi - genetics |
1 |
|
kidney diseases - genetics - metabolism |
1 |
|
kidney failure, chronic - diagnosis - immunology |
1 |
|
kidney failure, chronic - genetics - therapy |
1 |
|
kidney function tests |
1 |
|
kidney glomerulus - pathology - ultrastructure |
1 |
|
kidney transplantation |
1 |
|
lactic acid - blood |
1 |
|
lactic acidaemia |
1 |
|
lactic acidosis |
1 |
|
leigh disease |
1 |
|
leigh disease - diagnosis - genetics - pathology |
1 |
|
leucine - genetics |
1 |
|
leukocyte count |
1 |
|
leukocytes - drug effects - immunology |
1 |
|
leukocytes - enzymology |
1 |
|
leukoencephalopathy |
1 |
|
ligands |
1 |
|
limit of detection |
1 |
|
lipid metabolism, inborn errors - diagnosis - genetics - prevention and control |
1 |
|
lipids - blood |
1 |
|
lipoprotein lipase - biosynthesis - blood - chemistry - genetics |
1 |
|
lipoprotein lipase - deficiency - genetics |
1 |
|
lipoprotein lipase - genetics |
1 |
|
lipoprotein lipase - genetics - metabolism |
1 |
|
lipoproteins - genetics |
1 |
|
liver failure, acute - diagnosis - enzymology - etiology |
1 |
|
liver failure, acute - diagnosis - etiology - genetics |
1 |
|
liver glycogenosis |
1 |
|
liver/metabolism |
1 |
|
logistic models |
1 |
|
loh |
1 |
|
long qt syndrome - chemically induced |
1 |
|
loss of heterozygosity |
1 |
|
lung neoplasms - diagnosis - secondary - secretion |
1 |
|
lymphocyte activation - drug effects |
1 |
|
macaca mulatta |
1 |
|
magnetic purification |
1 |
|
male pseudohermaphroditism |
1 |
|
male runners |
1 |
|
malignant osteopetrosis |
1 |
|
maroteaux-lamy syndrome |
1 |
|
mass screening - methods |
1 |
|
mass spectrometry - methods |
1 |
|
mct8 deficiency |
1 |
|
mecp2 gene |
1 |
|
melas syndrome |
1 |
|
melas syndrome - chemically induced - diagnosis - genetics |
1 |
|
melas syndrome - genetics - pathology |
1 |
|
membrane proteins - genetics |
1 |
|
membrane proteins - genetics - metabolism |
1 |
|
metabolic autopsy |
1 |
|
metabolic syndrome x - genetics - metabolism |
1 |
|
metabolism |
1 |
|
metabolism, inborn errors - diagnosis - genetics - urine |
1 |
|
metabolism, inborn errors - diagnosis - metabolism |
1 |
|
metabolism, inborn errors - enzymology - genetics |
1 |
|
metalloproteins - deficiency - genetics |
1 |
|
metapneumovirus - immunology - isolation & purification |
1 |
|
methyl alkanes |
1 |
|
methylmalonic acid - urine |
1 |
|
mice |
1 |
|
mice, inbred balb c |
1 |
|
mice, nude |
1 |
|
mice, transgenic |
1 |
|
microarray analysis - methods |
1 |
|
microsatellite repeats |
1 |
|
microscopy, electron, scanning |
1 |
|
minigene |
1 |
|
missense |
1 |
|
missense mutation |
1 |
|
mitochondria - chemistry |
1 |
|
mitochondrial cytopathy |
1 |
|
mitochondrial diseases - diagnosis - genetics - prevention and control |
1 |
|
mitochondrial dna |
1 |
|
mitochondrial dna depletion syndrome |
1 |
|
mitochondrial encephalomyopathies |
1 |
|
mitochondrial encephalomyopathy |
1 |
|
mitochondrial encephalopathy |
1 |
|
mitochondrial mutation |
1 |
|
mitochondrial proteins |
1 |
|
mitochondriopathy |
1 |
|
molecular autopsy |
1 |
|
molecular biology - methods |
1 |
|
molecular diagnostic techniques |
1 |
|
molecular epidemiology |
1 |
|
molecular weight |
1 |
|
molybdenum |
1 |
|
monosaccharide transport proteins |
1 |
|
monosaccharide transport proteins - genetics |
1 |
|
mouth mucosa - chemistry |
1 |
|
movement disorders |
1 |
|
mpsiiib |
1 |
|
mucolipidoses - diagnosis |
1 |
|
mucopolysaccharidosis |
1 |
|
mucopolysaccharidosis ii - etiology - genetics |
1 |
|
mucopolysaccharidosis iv - genetics |
1 |
|
mucopolysaccharidosis type iv |
1 |
|
mucopolysaccharidosis vi - diagnosis |
1 |
|
mucopolysaccharidosis vi - therapy |
1 |
|
multiple acyl coenzyme a dehydrogenase deficiency - diagnosis - pathology |
1 |
|
multiple myeloma - complications - immunology - urine |
1 |
|
multiple myeloma - diagnosis |
1 |
|
multiple myeloma - metabolism |
1 |
|
multivariate analysis |
1 |
|
muscle hypotonia - diagnosis - drug therapy - genetics |
1 |
|
muscle proteins - genetics |
1 |
|
muscle weakness - diagnosis - drug therapy - genetics |
1 |
|
muscular diseases - diagnosis - genetics - prevention and control |
1 |
|
muscular dystrophies |
1 |
|
mutagenesis, insertional |
1 |
|
mutagenesis, site-directed |
1 |
|
mutation - genetics |
1 |
|
mutation analysis |
1 |
|
mutation detection |
1 |
|
mutation, missense |
1 |
|
mutation, missense - genetics |
1 |
|
myasthenic syndromes, congenital - complications - diagnosis - enzymology |
1 |
|
myocardium - chemistry - metabolism |
1 |
|
myoglobulinuria |
1 |
|
myopathy |
1 |
|
n-acetylgalactosamine-4-sulfatase - blood |
1 |
|
n-acetylgalactosamine-4-sulfatase - genetics |
1 |
|
n-acetylvanilalanine |
1 |
|
nadh dehydrogenase - genetics |
1 |
|
narcolepsy |
1 |
|
narcolepsy - ethnology - genetics |
1 |
|
narcolepsy spectrum |
1 |
|
nasopharyngeal neoplasms - blood - diagnosis - genetics - mortality |
1 |
|
nasopharyngeal neoplasms - genetics - metabolism - pathology |
1 |
|
nasopharynx - metabolism - pathology |
1 |
|
neonatal screening |
1 |
|
neoplasm invasiveness |
1 |
|
neoplasm proteins - genetics |
1 |
|
neurodegenerative diseases |
1 |
|
neurologic examination |
1 |
|
neuronal ceroid-lipofuscinoses - enzymology - genetics |
1 |
|
neutropenia |
1 |
|
next generation primer design algorithm |
1 |
|
non-ceruloplasmin-bound copper |
1 |
|
non-primer-site snv |
1 |
|
norepinephrine - urine |
1 |
|
normalization |
1 |
|
novel missense mutation |
1 |
|
nuclear family |
1 |
|
nucleic acid conformation |
1 |
|
nucleic acid denaturation |
1 |
|
nucleic acid heteroduplexes - analysis |
1 |
|
nucleic acid hybridization |
1 |
|
nutritional physiological phenomena - immunology - physiology |
1 |
|
odds ratio |
1 |
|
oligonucleotide array sequence analysis - methods - standards |
1 |
|
oligonucleotide array sequence analysis - methods - statistics & numerical data |
1 |
|
oncogene proteins - genetics |
1 |
|
oncogene proteins, viral - genetics |
1 |
|
oncogenes |
1 |
|
organic anion transporters - genetics |
1 |
|
organic cation transport proteins - genetics |
1 |
|
organic chemicals |
1 |
|
osteopetrosis - diagnosis - genetics |
1 |
|
oxidation-reduction |
1 |
|
oxidative phosphorylation - drug effects |
1 |
|
oxidoreductases - deficiency - genetics |
1 |
|
oxidoreductases - genetics |
1 |
|
oxidoreductases acting on ch-ch group donors |
1 |
|
oxidoreductases acting on sulfur group donors - deficiency - genetics |
1 |
|
oxygen consumption |
1 |
|
pancreatic diseases - complications |
1 |
|
pank2 |
1 |
|
pantothenate kinase 2 |
1 |
|
pantothenate kinase-associated neurodegeneration - diagnosis - ethnology |
1 |
|
pantothenate kinase-associated neurodegeneration - genetics |
1 |
|
papillomaviridae - classification - genetics |
1 |
|
papillomaviridae - genetics - isolation & purification |
1 |
|
papillomavirus e7 proteins |
1 |
|
papillomavirus infections - complications - epidemiology - virology |
1 |
|
papillomavirus infections - epidemiology - virology |
1 |
|
paraganglioma |
1 |
|
paraganglioma - diagnosis - secretion |
1 |
|
paraganglioma - genetics |
1 |
|
paraganglioma, extra-adrenal - complications - diagnosis - drug therapy - surgery |
1 |
|
paraganglioma, extra-adrenal - genetics |
1 |
|
paraproteinemias - diagnosis |
1 |
|
parity |
1 |
|
parkin |
1 |
|
parkinson disease - complications - ethnology - genetics |
1 |
|
parkinson's disease |
1 |
|
parkinsonian disorders - diagnosis - ethnology |
1 |
|
patched |
1 |
|
pathology, molecular - methods |
1 |
|
pcr purification |
1 |
|
pearson's syndrome |
1 |
|
pemphigus, benign familial - epidemiology - ethnology - genetics |
1 |
|
penetrance |
1 |
|
penicillamine challenge test |
1 |
|
peptide hydrolases - genetics |
1 |
|
performance run |
1 |
|
permanent neonatal diabetes mellitus |
1 |
|
personalized medicine |
1 |
|
pfic2 |
1 |
|
phaeochromocytoma |
1 |
|
phenotype |
1 |
|
phosphorylase kinase deficiency |
1 |
|
phosphotransferases (alcohol group acceptor) - genetics |
1 |
|
phosphotransferases (alcohol group acceptor)/genetics |
1 |
|
phosphotransferases - deficiency - genetics |
1 |
|
phosphotransferases - genetics |
1 |
|
physical endurance - drug effects - physiology |
1 |
|
physical endurance - immunology - physiology |
1 |
|
physical endurance - physiology |
1 |
|
pilot projects |
1 |
|
pink1 |
1 |
|
plasma cystine |
1 |
|
pleura - enzymology - microbiology |
1 |
|
pleural effusion - blood - classification |
1 |
|
pleural effusion - chemistry - classification |
1 |
|
pleural effusion - classification - diagnosis - etiology |
1 |
|
pleural fluid |
1 |
|
point-of-care systems - standards |
1 |
|
polymorphism |
1 |
|
polymorphism, single nucleotide |
1 |
|
polymorphism, single nucleotide - genetics |
1 |
|
polymorphism, single-stranded conformational |
1 |
|
polysomnography |
1 |
|
population screening |
1 |
|
population surveillance |
1 |
|
porphyria |
1 |
|
porphyria cutanea tarda - diagnosis |
1 |
|
porphyria, acute intermittent - blood - enzymology - genetics - pathology |
1 |
|
porphyria, acute intermittent - enzymology - genetics |
1 |
|
porphyria, acute intermittent - genetics |
1 |
|
porphyrias - metabolism |
1 |
|
porphyrins - analysis |
1 |
|
porphyrins - analysis - urine |
1 |
|
positron emission tomography |
1 |
|
positron-emission tomography |
1 |
|
postprandial period - physiology |
1 |
|
potassium - blood |
1 |
|
ppox |
1 |
|
ppox gene |
1 |
|
precision medication |
1 |
|
predictive value of tests |
1 |
|
pregnancy |
1 |
|
pregnancy complications - etiology |
1 |
|
pregnancy complications, neoplastic - diagnosis |
1 |
|
prenatal diagnosis |
1 |
|
prenatal diagnosis - methods |
1 |
|
primary hyperoxaluria type 1 |
1 |
|
primary hyperoxaluria type 2 (ph2) |
1 |
|
prime-number genetic code |
1 |
|
primeindel |
1 |
|
progressive familial intrahepatic cholestasis |
1 |
|
proline - genetics |
1 |
|
prospective studies |
1 |
|
protein biosynthesis |
1 |
|
protein conformation |
1 |
|
protein denaturation |
1 |
|
protein kinases - genetics |
1 |
|
protein s - genetics |
1 |
|
protein s deficiency - complications |
1 |
|
protein-o-mannosyltransferase |
1 |
|
proteins - analysis |
1 |
|
proteins - metabolism |
1 |
|
proteinuria - etiology |
1 |
|
proto-oncogene proteins b-raf |
1 |
|
protoporphyria, erythropoietic - blood - epidemiology - pathology |
1 |
|
protoporphyria, erythropoietic - diagnosis - genetics |
1 |
|
protoporphyrinogen oxidase |
1 |
|
protoporphyrins - blood - genetics |
1 |
|
psychiatric disorder |
1 |
|
pteridines |
1 |
|
purine-pyrimidine metabolism, inborn errors |
1 |
|
purine-pyrimidine metabolism, inborn errors - diagnosis - genetics |
1 |
|
pyrimidines - metabolism |
1 |
|
qtc prolongation |
1 |
|
rare diseases - diagnosis - genetics |
1 |
|
ras |
1 |
|
ras proteins - metabolism |
1 |
|
ras signalling |
1 |
|
rats |
1 |
|
real-time amplification refractory mutation system |
1 |
|
real-time reverse transcription-polymerase chain reaction |
1 |
|
receptors |
1 |
|
receptors, calcium-sensing |
1 |
|
receptors, calcium-sensing - chemistry - genetics |
1 |
|
receptors, calcium-sensing - genetics |
1 |
|
receptors, cell surface |
1 |
|
receptors, cell surface - chemistry - genetics - physiology |
1 |
|
receptors, cell surface - genetics |
1 |
|
receptors, g-protein-coupled |
1 |
|
receptors, glycine - genetics |
1 |
|
receptors, retinoic acid - genetics |
1 |
|
receptors, thyroid hormone - genetics |
1 |
|
recovery of function - physiology |
1 |
|
recurrence |
1 |
|
recurrent infection |
1 |
|
reference values |
1 |
|
renal biopsy |
1 |
|
renal cell carcinoma |
1 |
|
repressor proteins - genetics |
1 |
|
reproducibility of results |
1 |
|
resistance to thyroid hormone |
1 |
|
respiration, artificial |
1 |
|
respiratory insufficiency - diagnosis - enzymology - etiology |
1 |
|
restriction mapping |
1 |
|
retrospective studies |
1 |
|
rett syndrome - genetics |
1 |
|
rett syndrome - genetics - physiopathology |
1 |
|
rhabdomyolysis |
1 |
|
risk |
1 |
|
rna - analysis |
1 |
|
rna secondary structure modeling |
1 |
|
rna splice sites - genetics |
1 |
|
rna splicing |
1 |
|
rna, ribosomal, 16s - chemistry - genetics |
1 |
|
rna, ribosomal, 16s - genetics |
1 |
|
roc curve |
1 |
|
roseolovirus infections - epidemiology - virology |
1 |
|
running - physiology |
1 |
|
ryanodine receptor calcium release channel - genetics |
1 |
|
salvage pathway |
1 |
|
sanfilippo disease type b |
1 |
|
schizophrenia - complications - ethnology - genetics |
1 |
|
screening |
1 |
|
seizures - complications - etiology |
1 |
|
seizures - etiology |
1 |
|
sequence analysis, dna - methods |
1 |
|
sequence deletion |
1 |
|
sequence homology, nucleic acid |
1 |
|
sequence read alignment |
1 |
|
serine proteases |
1 |
|
severe acute respiratory syndrome - epidemiology - physiopathology - virology |
1 |
|
severity of illness index |
1 |
|
sex factors |
1 |
|
siblings |
1 |
|
sideroblastic anaemia |
1 |
|
single-nucleotide polymorphism microarray |
1 |
|
sitosterolemia |
1 |
|
sitosterols - blood |
1 |
|
skin neoplasms - genetics |
1 |
|
slc16a2 |
1 |
|
slc3a1 |
1 |
|
slc7a9 |
1 |
|
sleep stages - physiology |
1 |
|
smoothened |
1 |
|
snp array |
1 |
|
sodium - blood |
1 |
|
southern chinese |
1 |
|
spastic paraplegia 56 |
1 |
|
spasticity |
1 |
|
spinal cord compression - etiology |
1 |
|
splicing mutation |
1 |
|
sports drink |
1 |
|
srd5a2 |
1 |
|
steroid 17-alpha-hydroxylase - genetics |
1 |
|
steroid 5α-reductase 2 deficiency |
1 |
|
stiff-person syndrome - diagnosis - drug therapy - genetics |
1 |
|
strategic collaboration |
1 |
|
stroke-like episodes syndrome |
1 |
|
succinate dehydrogenase |
1 |
|
succinate dehydrogenase - deficiency - genetics |
1 |
|
succinate dehydrogenase - genetics |
1 |
|
sudden death |
1 |
|
sudden infant death - genetics |
1 |
|
sulfite |
1 |
|
sulfite oxidase - deficiency |
1 |
|
sulfite oxidase - deficiency - genetics |
1 |
|
sulfite oxidase deficiency |
1 |
|
sulfocysteine |
1 |
|
sulfonylurea |
1 |
|
suox |
1 |
|
suox gene |
1 |
|
symmetry |
1 |
|
synaptic transmission - genetics |
1 |
|
syncope - etiology |
1 |
|
syndrome |
1 |
|
tachycardia, ventricular - genetics |
1 |
|
terminology as topic |
1 |
|
th deficiency |
1 |
|
threonine - genetics |
1 |
|
thymine |
1 |
|
thymine - urine |
1 |
|
thymine-uraciluria |
1 |
|
thyroid hormone |
1 |
|
thyroid hormone receptor beta |
1 |
|
thyroid hormone receptors beta |
1 |
|
thyroid hormone receptors beta - genetics - metabolism |
1 |
|
thyroid hormone resistance syndrome |
1 |
|
thyroid hormone resistance syndrome - diagnosis - genetics |
1 |
|
thyroid hormone resistance syndrome - drug therapy - genetics |
1 |
|
thyroid hormones - genetics - metabolism |
1 |
|
thyrotropin |
1 |
|
tomography, x-ray computed |
1 |
|
top2b |
1 |
|
topoisomerase |
1 |
|
torsades de pointes |
1 |
|
torsades de pointes - chemically induced - genetics |
1 |
|
total homocysteine |
1 |
|
tpk1 |
1 |
|
trans-activators |
1 |
|
transaminases - genetics |
1 |
|
transcript expression analysis |
1 |
|
transcription, genetic |
1 |
|
transduction, genetic |
1 |
|
transfection-based transient expression |
1 |
|
translational medicine |
1 |
|
transplantation chimera - blood |
1 |
|
treadmill running |
1 |
|
tremor |
1 |
|
triclosan - blood - chemistry |
1 |
|
triiodothyronine - analogs & derivatives - therapeutic use |
1 |
|
tuberculosis, pleural - diagnosis - enzymology - microbiology |
1 |
|
tuberculous pleurisy |
1 |
|
tumor suppressor proteins |
1 |
|
tumor suppressor proteins - genetics - metabolism |
1 |
|
tumor virus infections - complications - epidemiology - virology |
1 |
|
tumor virus infections - epidemiology - virology |
1 |
|
turkey |
1 |
|
type 2 diabetes |
1 |
|
tyrosine 3-monooxygenase - genetics |
1 |
|
tyrosinemia type i |
1 |
|
ube3a |
1 |
|
ubiquitin-protein ligases - genetics |
1 |
|
ultraviolet rays |
1 |
|
upd |
1 |
|
uracil - urine |
1 |
|
uric acid |
1 |
|
uric acid - metabolism |
1 |
|
urine - cytology |
1 |
|
urine vanillactic acid |
1 |
|
urobilin - analysis |
1 |
|
uterine cervical neoplasms - epidemiology - pathology - virology |
1 |
|
uterine cervical neoplasms - epidemiology - virology |
1 |
|
vacuolar proton-translocating atpases - genetics |
1 |
|
valproate |
1 |
|
valproic acid - adverse effects - pharmacology |
1 |
|
variegate porphyria |
1 |
|
very long-chain acyl-coa dehydrogenase deficiency |
1 |
|
viral envelope proteins - genetics |
1 |
|
water-electrolyte balance - physiology |
1 |
|
whole-exome sequencing (wes) |
1 |
|
whole-genome scan |
1 |
|
wilson's disease |
1 |
|
x chromosome - genetics |
1 |
|
x-linked |
1 |
|
x-linked mental retardation |
1 |
|
xanthine |
1 |
|
xenograft model antitumor assays |
1 |
|
xeroderma pigmentosum |
1 |
|
xeroderma pigmentosum - diagnosis - genetics |
1 |
|
young adult |
1 |
|
young-onset parkinsonism |
1 |
|
β-herpesvirus |
1 |
