Browsing "Paediatrics & Adolescent Medicine: Journal/Magazine Articles" by Author kan, asy

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 5 to 10 of 10 < previous 
TitleAuthor(s)Issue DateViews
 
Increasing prenatal diagnosis of chimeras with the use of noninvasive prenatal screening: Report of two cases
Journal:Prenatal Diagnosis
Yu, FNYLi, EYYKong, MCWMa, TWLChan, KYKMan, EChung, BHYKan, ASY
2021
26
 
Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature
Journal:American Journal of Medical Genetics Part A
Seto, MTYBertoli-Avella, AMCheung, KWChan, KYKYeung, KSFung, JLFBeetz, CBauer, PLuk, HMLo, IFMLee, CPChung, BHYKan, ASY
2021
18
 
Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in <i>SMAD4</i> gene presented with thick nuchal translucency and cardiac abnormalities
Journal:Prenatal Diagnosis
Hui, PWMok, YKLuk, HMAu, SLKLau, EYTChung, BKan, ASY
2-Aug-2023
 
Spread of X Inactivation on Chromosome 15 is Associated with a More Severe Phenotype in a Girl with an Unbalanced t(X;15) Translocation
Journal:American Journal of Medical Genetics Part A
Yeung, KSChee, WYYLuk, HMKan, ASYTang, MHYLau, ETKShuen, AYLo, IFMChan, YKChung, BHY
2014
57
 
The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes
Journal:Molecular Genetics & Genomic Medicine
Yeung, KSYu, FNYFung, CWWong, SLee, HCHFung, STHFung, GPGLeung, KYChung, WHLee, YTNg, VKSYU, HCFung, JLFTSANG, MHYChan, KYKChan, SHSKan, ASYChung, BHY
2020
49
 
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10
Journal:Molecular Autism
Mak, ASLChiu, TALeung, KCMak, CCYChu, WYMok, TKGTang, WFChan, YKTang, MHYLau, ETKSo, KWTao, QVFung, CWWong, CNVUddin, MLee, SLMarshall, CRScherer, SWKan, ASYChung, BHY
2017
159
Showing results 5 to 10 of 10 < previous