E-LIB Suche - Ergebnisse für: Mak, Christopher C.Y.

1

Whole genome sequencing in paediatric channelopathy and car..:

Kwok, Sit Yee ; Kwong, Anna Ka Yee ; Shi, Julia Zhuo...
Frontiers in Cardiovascular Medicine. 11 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

2

Asthma subtypes and risk of cardiovascular disease: A Mende..:

Ng, Nicole Y. T. ; Zhao, Jie V. ; Mak, Christopher C. Y...
Pediatric Allergy and Immunology. 34 (2023) 7 - p. , 2023

Link: https://doi.org/10.1111/..

3

O17: GestaltMatcher supports classification of ultra-rare d..:

Klinkhammer, Hannah ; Lesmann, Hellen ; Moosa, Shahida...
Genetics in Medicine Open. 1 (2023) 1 - p. 100113 , 2023

Link: https://doi.org/10.1016/..

4

Evaluating High‐Confidence Genes in Conotruncal Cardiac Def..:

Chui, Martin M. C. ; Mak, Christopher C. Y. ; Yu, Mullin H. C....
Journal of the American Heart Association. 12 (2023) 4 - p. , 2023

Link: https://doi.org/10.1161/..

5

Revealing parental mosaicism: the hidden answer to the recu..:

Lee, Mianne ; Lui, Adrian C. Y. ; Chan, Joshua C. K....
Human Genomics. 17 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

6

Diagnostic potential of the amniotic fluid cells transcript..:

Lee, Mianne ; Kwong, Anna K. Y. ; Chui, Martin M. C....
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

7

Understanding and perception of direct‐to‐consumer genetic ..:

Hui, Vivian C. C. ; Li, H. C. ; Chow, Josh H. K....
Journal of Genetic Counseling. 30 (2021) 6 - p. 1640-1648 , 2021

Link: https://doi.org/10.1002/..

8

A three-year follow-up study evaluating clinical utility of..:

Fung, Jasmine L. F. ; Yu, Mullin H. C. ; Huang, Shushu...
npj Genomic Medicine. 5 (2020) 1 - p. , 2020

Link: https://doi.org/10.1038/..

9

Rapid whole-exome sequencing facilitates precision medicine..:

Chung, Claudia C.Y. ; Leung, Gordon K.C. ; Mak, Christopher C.Y....
The Lancet Regional Health - Western Pacific. 1 (2020) - p. 100001 , 2020

Link: https://doi.org/10.1016/..

10

Delineation of molecular findings by whole-exome sequencing..:

Tsang, Mandy H.Y. ; Kwong, Anna K.Y. ; Chan, Kate L.S....
Human Genomics. 14 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

11

Diagnostic value of whole‐exome sequencing in Chinese pedia..:

Tsang, Mandy H. Y. ; Chiu, Annie T. G. ; Kwong, Bernard M. H....
Molecular Genetics & Genomic Medicine. 8 (2020) 5 - p. , 2020

Link: https://doi.org/10.1002/..

12

Reply: MN1 gene loss-of-function mutation causes cleft pala..:

Vegas, Nancy ; Low, Karen ; Mak, Christopher C Y...
Brain. 144 (2020) 2 - p. e19-e19 , 2020

Link: https://doi.org/10.1093/..

13

A significant inflation in TGM6 genetic risk casts doubt in..:

Fung, Jasmine L.F. ; Tsang, Mandy H.Y. ; Leung, Gordon K.C....
Parkinsonism & Related Disorders. 63 (2019) - p. 42-45 , 2019

Link: https://doi.org/10.1016/..

14

Phenotypic and mutational spectrum of 21 Chinese patients w..:

Rethanavelu, Kavitha ; Fung, Jasmine L. F. ; Chau, Jeffrey F. T....
American Journal of Medical Genetics Part A. 182 (2019) 2 - p. 279-288 , 2019

Link: https://doi.org/10.1002/..

15

MN1 C-terminal truncation syndrome is a novel neurodevelopm..:

Mak, Christopher C Y ; Doherty, Dan ; Lin, Angela E...
Brain. 143 (2019) 1 - p. 55-68 , 2019

Link: https://doi.org/10.1093/..