E-LIB Suche - Ergebnisse für: Chui, Martin MC

1

eP410: De novo missense variants in DDX39B cause a novel sy..:

Treat, Kayla ; Jangam, Sharayu ; Yamamoto, Shinya...
Genetics in Medicine. 24 (2022) 3 - p. S257-S258 , 2022

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

2

Gene expression counts from amniotic fluid cells:

Lee, Mianne ; Kwong, Anna KY ; Chui, Martin MC...
doi:10.5281/zenodo.7079683. , 2022

Link: https://zenodo.org/recor..

3

A dual--band switching digital controller for a buck conver..:

, In: Proceedings of the 2004 Asia and South Pacific Design Automation Conference,

Chui, Martin Yeung-Kei ; Ki, Wing-Hung ; Tsui, Chi-Ying - p. 561-562 , 2004

Link: https://dl.acm.org/doi/1..

4

Measurement of the Porous Microstructure of Hydrogels by Nu..:

Chui, Martin M. ; Phillips, Ronald J. ; McCarthy, Michael J.
Journal of Colloid and Interface Science. 174 (1995) 2 - p. 336-344 , 1995

Link: https://doi.org/10.1006/..

5

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/..

6

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/..

7

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/..

8

Comprehensive analysis of recessive carrier status using ex..:

Chau, Jeffrey Fong Ting ; Yu, Mullin Ho Chung ; Chui, Martin Man Chun...
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

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

9

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/..

10

Application of Prenatal Whole Exome Sequencing for Structur..:

Lai, Theodora Hei Tung ; Au, Leung Kuen Sandy ; Lau, Yuen Ting Eunice...
Healthcare. 10 (2022) 12 - p. 2521 , 2022

Link: https://doi.org/10.3390/..

11

Functional Evaluation and Genetic Landscape of Children and..:

Chau, Jeffrey Fong Ting ; Lee, Mianne ; Chui, Martin Man Chun...
Frontiers in Genetics. 13 (2022) - p. , 2022

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

12

Invasive cerebral phaeohyphomycosis in a Chinese boy with C..:

Lai, Sophie H.Y. ; Duque, Jaime S. Rosa ; Chung, Brian Hon-Yin...
International Journal of Infectious Diseases. 107 (2021) - p. 59-61 , 2021

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

13

O25: Bridging the neurodevelopmental diagnostic gap: A comp..:

Hon-Yin Chung, Brian ; Yee Kwong, Anna Ka ; Chun Chui, Martin Man...
Genetics in Medicine Open. 2 (2024) - p. 101019 , 2024

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

14

P588: De novo and inherited variants in DDX39B cause a nove..:

Booth, Kevin ; Jangam, Sharayu ; Man Chun Chui, Martin...
Genetics in Medicine Open. 2 (2024) - p. 101494 , 2024

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

15

A transient protein folding response targets aggregation in..:

San Gil, Rebecca ; Pascovici, Dana ; Venturato, Juliana...
Nature Communications. 15 (2024) 1 - p. , 2024

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