E-LIB Suche - Ergebnisse für: Chung, Brian Hon-yin

1

Prioritize Variant Reclassification in Pediatric Long QT Sy..:

Leung, Hei-To ; Kwok, Sit-Yee ; Kwong, Ka-Yee...
Pediatric Cardiology. 45 (2024) 5 - p. 1023-1035 , 2024

Link: https://doi.org/10.1007/..

2

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/..

3

Successful transition from insulin to sulphonylurea in a ch..:

Poon, Sarah Wing-yiu ; Chung, Brian Hon-yin ; Tsang, Mandy Ho-yin.
Clinical Pediatric Endocrinology. 31 (2022) 3 - p. 168-171 , 2022

Link: https://doi.org/10.1297/..

4

Exome sequencing in paediatric patients with movement disor..:

Kwong, Anna Ka-Yee ; Tsang, Mandy Ho-Yin ; Fung, Jasmine Lee-Fong...
Orphanet Journal of Rare Diseases. 16 (2021) 1 - p. , 2021

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

5

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neuro..:

Chai, Guoliang ; Webb, Alice ; Li, Chen...
Neuron. 109 (2021) 2 - p. 241-256.e9 , 2021

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

6

High diagnostic yield in skeletal ciliopathies using massiv..:

Hammarsjö, Anna ; Pettersson, Maria ; Chitayat, David...
Journal of Human Genetics. 66 (2021) 10 - p. 995-1008 , 2021

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

7

Further expanding the clinical phenotype in Bainbridge-Rope..:

Yu, Kris Pui-Tak ; Luk, Ho-Ming ; Fung, Jasmine L.F...
European Journal of Medical Genetics. 64 (2021) 1 - p. 104107 , 2021

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

8

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/..

9

Headache in a Child with Pseudohypoparathyroidism: An Alarm..:

Poon, Sarah Wing-yiu ; Chung, Brian Hon-yin ; Tsang, Anita Man-ching..
Case Reports in Endocrinology. 2020 (2020) - p. 1-4 , 2020

Link: https://doi.org/10.1155/..

10

Primary coenzyme Q10 deficiency-7: expanded phenotypic spec..:

Yu, Mullin Ho-Chung ; Tsang, Mandy Ho-Yin ; Lai, Sophie...
npj Genomic Medicine. 4 (2019) 1 - p. , 2019

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

11

A report of three families with FBN1- related acromelic dys..:

Cheng, S.W. ; Luk, Ho-Ming ; Chu, YoYo W.Y....
European Journal of Medical Genetics. 61 (2018) 4 - p. 219-224 , 2018

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

12

A recurrent de novo DYNC1H1 tail domain mutation causes spi..:

Chan, Sophelia Hoi Shan ; van Alfen, Nens ; Thuestad, Inger Johanne...
Neuromuscular Disorders. 28 (2018) 9 - p. 750-756 , 2018

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

13

Genome-Wide DNA Methylation Analysis of Chinese Patients wi..:

Yeung, Kit San ; Chung, Brian Hon-Yin ; Choufani, Sanaa...
PLOS ONE. 12 (2017) 1 - p. e0169553 , 2017

Link: https://doi.org/10.1371/..

14

Identification of mutations in the PI3K-AKT-mTOR signalling..:

Yeung, Kit San ; Tso, Winnie Wan Yee ; Ip, Janice Jing Kun...
Molecular Autism. 8 (2017) 1 - p. , 2017

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

15

Pathogenetics of alveolar capillary dysplasia with misalign..:

Szafranski, Przemyslaw ; Gambin, Tomasz ; Dharmadhikari, Avinash V....
Human Genetics. 135 (2016) 5 - p. 569-586 , 2016

Link: https://doi.org/10.1007/..