Chung, Brian Hon-yin: search on Z-Library

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1

Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions

Yu, Kris Pui-Tak, Luk, Ho-Ming, Fung, Jasmine L.F., Chung, Brian Hon-Yin, Lo, Ivan Fai-Man

Journal:

European Journal of Medical Genetics

Year:

2021

File:

PDF, 1.88 MB

2021

2

A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality

Chan, Sophelia Hoi-Shan, Alfen, Nens van, Thuestad, Inger Johanne, Ip, Janice, Chan, Angel On-Kei, Mak, Christopher, Chung, Brian Hon-Yin, Verrips, Aad, Kamsteeg, Erik-Jan

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 876 KB

english, 2018

3

Headache in a Child with Pseudohypoparathyroidism: An Alarming Symptom Not to Miss

Poon, Sarah Wing-yiu, Chung, Brian Hon-yin, Tsang, Anita Man-ching, Poon, Grace Wing-kit, Kita, Toshihiro

Journal:

Case Reports in Endocrinology

Year:

2020

File:

PDF, 1.61 MB

2020

4

Genome-Wide DNA Methylation Analysis of Chinese Patients with Systemic Lupus Erythematosus Identified Hypomethylation in Genes Related to the Type I Interferon Pathway

Yeung, Kit San, Chung, Brian Hon-Yin, Choufani, Sanaa, Mok, Mo Yin, Wong, Wai Lap, Mak, Christopher Chun Yu, Yang, Wanling, Lee, Pamela Pui Wah, Wong, Wilfred Hing Sang, Chen, Yi-an, Grafodatskaya, Da

Journal:

Year:

2017

Language:

english

File:

PDF, 1.50 MB

english, 2017

5

Inherited thrombophilic factors do not increase central venous catheter blockage in children with malignancy

Brian Hon-Yin Chung, Edmond Shiu-Kwan Ma, Pek-Lan Khong, Godfrey Chi-Fung Chan

Journal:

Pediatric Blood & Cancer

Year:

2008

Language:

english

File:

PDF, 75 KB

english, 2008

6

A report of three families with FBN1- related acromelic dysplasias and review of literature for genotype-phenotype correlation in gelophysic dysplasia

Cheng, S.W., Luk, Ho-Ming, Chu, YoYo W.Y., Tung, Yuet-Ling, Kwan, Elanie Yin-Wah, Lo, Ivan Fai-Man, Chung, Brian Hon-Yin

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 492 KB

english, 2017

7

Somatic PIK3CA mutations in seven patients with PIK3CA -related overgrowth spectrum

Yeung, Kit San, Ip, Janice Jing Kun, Chow, Chin Pang, Kuong, Evelyn Yue Ling, Tam, Paul Kwong-Hang, Chan, Godfrey Chi-Fung, Chung, Brian Hon-Yin

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 674 KB

english, 2017

8

Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome

Koon-Wing Chan, Tsz-Leung Lee, Brian Hon-Yin Chung, Xiqiang Yang, Yu-Lung Lau

Journal:

Year:

2002

Language:

english

File:

PDF, 150 KB

english, 2002

9

Whole exome sequencing identified candidate gene mutations in a pedigree of familial myeloproliferative neoplasm

Cher, Chae Yin, Lam Ng, Nelson Ka, Yuen Lam, Stephen Sze, He, Bai-Liang, Ying, Dingge, Hon-Yin Chung, Brian, Au, Chun Hung, Chan, Tsun Leung, Kwan Ma, Edmond Shiu, Suen Liang, Raymond Hin, Kwong, Yok

Journal:

Experimental Hematology

Year:

2017

Language:

english

File:

PDF, 179 KB

english, 2017

10

Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes

Brian Hon-Yin Chung, Stephen Tak-Sum Lam, Tony Ming-For Tong, Susanna Yuk-Han Li, Kin-Shing Lun, Daniel Hon-Chuen Chan, Susanna Fung-Shan Fok, June Siu-Fong Or, David Keith Smith, Wanling Yang, Yu-Lun

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 282 KB

english, 2009

11

Correspondence

Chung, Brian Hon-Yin, Fernandez, Bridget, Li, Chumei, Chitayat, David

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 141 KB

english, 2012

12

Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension

McDonell, Laura M., Leung, Gordon Ka-Chun, Daoud, Hussein, Ip, Janice, Chim, Stella, Luk, Ho Ming, Lan, Lawrence, Boycott, Kym M., Chung, Brian Hon-Yin

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 1.05 MB

english, 2018

13

A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update

Chiu, Annie Ting Gee, Leung, Gordon Ka-Chun, Chu, Yoyo Wing-Yiu, Gripp, Karen W., Chung, Brian Hon-Yin

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 807 KB

english, 2017

14

Myhre syndrome

Yu, Kris Pui-Tak, Luk, Ho-Ming, Chung, Brian Hon-Yin, Lo, Ivan Fai-Man

Journal:

Clinical Dysmorphology

Year:

2019

File:

PDF, 367 KB

2019

15

SLC35A2-CDG: Functional Characterization, Expanded Molecular, Clinical, and Biochemical Phenotypes of 30 Unreported Individuals

Ng, Bobby G., Sosicka, Paulina, Agadi, Satish, Almannai, Mohammed, Bacino, Carlos A., Barone, Rita, Botto, Lorenzo D., Burton, Jennifer E., Carlston, Colleen, Chung, Brian Hon-Yin, Cohen, Julie S., Co

Journal:

Year:

2019

Language:

english

File:

PDF, 1.02 MB

english, 2019

16

Mowat-Wilson syndrome in a Chinese population: A case series

Ho, Stephanie, Luk, Ho-Ming, Chung, Brian Hon-Yin, Fung, Jasmine Lee-Fong, Mak, Harriet Hang-Yee, Lo, Ivan F. M.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

Language:

english

File:

PDF, 1.05 MB

english, 2020

17

EFIN: predicting the functional impact of nonsynonymous single nucleotide polymorphisms in human genome

Zeng, Shuai, Yang, Jing, Chung, Brian Hon-Yin, Lau, Yu Lung, Yang, Wanling

Journal:

Year:

2014

Language:

english

File:

PDF, 369 KB

english, 2014

18

Genetic Counseling/Consultation in South-East Asia: A Report from the Workshop at the 10th Asia Pacific Conference on Human Genetics

Zayts, Olga, Sarangi, Srikant, Thong, Meow-Keong, Chung, Brian Hon-yin, Lo, Ivan Fao-man, Kan, Anita Sik-yau, Lee, Juliana Mei-Har, Padilla, Carmencita David, Cutiongco-de la Paz, Eva Maria, Faradz, S

Journal:

Journal of Genetic Counseling

Year:

2013

Language:

english

File:

PDF, 166 KB

english, 2013

19

Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR

Panagiotou, Evangelia S., Sanjurjo Soriano, Carla, Poulter, James A., Lord, Emma C., Dzulova, Denisa, Kondo, Hiroyuki, Hiyoshi, Atsushi, Chung, Brian Hon-Yin, Chu, Yoyo Wing-Yiu, Lai, Connie H.Y., Taf

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 986 KB

english, 2017

20

Copy number variation and autism: New insights and clinical implications

Chung, Brian Hon-Yin, Tao, Victoria Qinchen, Tso, Winnie Wan-Yee

Journal:

Journal of the Formosan Medical Association

Year:

2014

Language:

english

File:

PDF, 709 KB

english, 2014

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