Showing results 15 to 21 of 21
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| Title | Author(s) | Issue Date | Views | |
|---|---|---|---|---|
How common is mosaicism? The 9 years-experience in a university affiliated genetic clinic in Hong Kong Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, &
Hong Kong College of Paediatric Nursing | 2019 | |||
Megaconial Congenital Muscular Dystrophy: Same Novel Homozygous Mutation In Chkb Gene In Two Unrelated Chinese Patients Journal:Neuromuscular Disorders | 2020 | 46 | ||
Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction Journal:Circulation: Genomic and Precision Medicine | 2020 | |||
Muddling Through Muscle Genes – The Quest For Diagnosis In 50 Patients With Neuromuscular Disorders Using Whole Exome Sequencing. Proceeding/Conference:Asian Oceanian Congress of Child Neurology | 2019 | 45 | ||
Next generation sequencing in prenatal diagnosis Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017 | 2017 | |||
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese Journal:npj Genomic Medicine | 2019 | 68 | ||
The KLHL40C.1516A>C is a Chinese-specific founder mutation in causing nemaline myopathy 8 Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, &
Hong Kong College of Paediatric Nursing | 2019 |