Browsing "Department of Paediatrics & Adolescent Medicine" by Author kan, asy

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Showing results 10 to 15 of 15 < previous 
TitleAuthor(s)Issue DateViews
 
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
 
An X-linked dominant mutation in LAMP2 causing Danon disease associated with myotonia expanding the spectrum
Proceeding/Conference:Neuromuscular Disorders
Chan, SHSKan, ASYTse, HF
2013
42
Showing results 10 to 15 of 15 < previous