Browsing by Author Yuen, YP

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 中
Showing results 18 to 30 of 30 < previous 
TitleAuthor(s)Issue DateViews
 
Maternally inherited leigh syndrome: An unusual cause of infantile apnea
Journal:Sleep and Breathing
Chau, CSKKwok, KLNg, DKLam, CWTong, SFChan, YWSiu, WKYuen, YP
2010
903
 
Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome
Journal:Clinica Chimica Acta
Lam, CWYuen, YPCheng, WFChan, YWTong, SF
2006
75
 
Molecular basis of von Hippel-Lindau syndrome in Chinese patients
Journal:Chinese Medical Journal
Siu, WKMa, RCWLam, CWMak, CMYuen, YPLo, FMIChan, KWLam, SFLing, SCTong, SFSo, WYChow, CCTang, MHYTam, WHChan, AYW
2011
168
 
Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study
Journal:Clinica Chimica Acta
Lee, HCHLai, CKYau, KCESiu, TSMak, CMYuen, YPChan, KYTam, SLam, CWChan, AYW
2012
130
 
A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia
Journal:Hong Kong Medical Journal
Lee, HHCLee, RSYLai, CKYuen, YPSiu, TSChan, AYWLam, CW
2010
95
 
Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b
Journal:Molecular Genetics and Metabolism
Yuen, YPCheng, WFTong, SFChan, YTChan, YWLam, CW
2002
61
 
Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor
Journal:American Journal of Kidney Diseases
Lam, CWYuen, YPLai, CKTong, SFLau, LKTong, KLChan, YW
2001
62
 
Novel mutation, c.1234delA, in the DAX1 gene in congenital adrenal hypoplasia
Journal:Clinica Chimica Acta
Lam, CWCheng, AWFPoon, WTYuen, YPHuen, KF
2006
64
 
Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity
Journal:Clinica Chimica Acta
OnKei Chan, ALam, CWTong, SFMan Tung, CYung, KChan, YWAu, KMYuen, YPHung, CTNg, KPShek, CC
2005
54
 
Novel mutations of the AGXT gene causing primary hyperoxaluria type 1
Journal:Journal of Nephrology
Yuen, YPLai, CKTong, GMWWong, PNWong, FKMMak, SKLo, KYWong, AKMTong, SFChan, YWLam, CW
2004
98
 
Novel splicing mutation of the PPOX gene (IVS10+1G→A) detected by denaturing high-performance liquid chromatography
Journal:Clinica Chimica Acta
Lam, CWHui, KNPoon, PMKLuk, NMYuen, YPTong, SFLai, CKChan, YWLo, KK
2001
50
 
Pantothenate kinase-associated neurodegeneration in two Chinese children: Identification of a novel PANK2 gene mutation
Journal:Hong Kong Medical Journal
Chan, KYLam, CWLee, LPTong, SFYuen, YP
2008
64
 
Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II
Journal:Diagnostic Molecular Pathology
Lee, HCHLai, CKSiu, TSYuen, YPChan, KYChan, AYWTam, SMak, CMLam, CW
2010
67
Showing results 18 to 30 of 30 < previous