Chung, Hon Yin Brian : rechercher sur Z-Library

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1

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

Année:

2018

Langue:

english

Fichier:

PDF, 876 KB

english, 2018

2

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

Année:

2021

Fichier:

PDF, 1.88 MB

2021

3

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:

Année:

2017

Langue:

english

Fichier:

PDF, 1.50 MB

english, 2017

4

Healthcare burden of rare diseases in Hong Kong – adopting ORPHAcodes in ICD-10 based healthcare administrative datasets

Chiu, Annie Ting Gee, Chung, Claudia Ching Yan, Wong, Wilfred Hing Sang, Lee, So Lun, Chung, Brian Hon Yin

Journal:

Orphanet Journal of Rare Diseases

Année:

2018

Langue:

english

Fichier:

PDF, 1.34 MB

english, 2018

5

CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty

Lau, Cheuk Lam, Chee, Yuet Yee, Chung, Brian Hon Yin, Wong, Ming Sum Rosanna

Journal:

BMJ Case Reports

Année:

2020

Fichier:

PDF, 381 KB

2020

6

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

Année:

2020

Fichier:

PDF, 1.61 MB

2020

7

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

Année:

2009

Langue:

english

Fichier:

PDF, 282 KB

english, 2009

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:

Année:

2002

Langue:

english

Fichier:

PDF, 150 KB

english, 2002

9

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

Année:

2008

Langue:

english

Fichier:

PDF, 75 KB

english, 2008

10

Feasibility and Effectiveness of a Chen-style Tai Chi Programme for Stress Reduction in Junior Secondary School Students

Linda Y. K. Lee, Yeuk Lan Chong, Ngai Yin Li, Man Chung Li, Lai Na Lin, Lee Yi Wong, Brian Kit Wong, Wing Ping Yip, Cho Hang Hon, Pui Kuen Chung, Shuk Yee Man

Journal:

Stress and Health

Année:

2012

Langue:

english

Fichier:

PDF, 125 KB

english, 2012

11

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

Année:

2013

Langue:

english

Fichier:

PDF, 166 KB

english, 2013

12

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

Année:

2014

Langue:

english

Fichier:

PDF, 709 KB

english, 2014

13

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:

Année:

2014

Langue:

english

Fichier:

PDF, 369 KB

english, 2014

14

Correspondence

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

Journal:

Clinical Dysmorphology

Année:

2012

Langue:

english

Fichier:

PDF, 141 KB

english, 2012

15

Prenatal Tobacco Exposure Shortens Telomere Length in Children

Ip, Patrick, Chung, Brian Hon Yin, Ho, Frederick Ka Wing, Chan, Godfrey Chi Fung, Deng, Wen, Wong, Wilfred Hing Sang, Lee, So Lun, Chan, Purdy Ying Ting, Ying, Dingge, Wong, Wai Lap, Tung, Keith Tsz S

Journal:

Nicotine & Tobacco Research

Année:

2016

Langue:

english

Fichier:

PDF, 798 KB

english, 2016

16

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

Année:

2017

Langue:

english

Fichier:

PDF, 674 KB

english, 2017

17

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

Année:

2017

Langue:

english

Fichier:

PDF, 807 KB

english, 2017

18

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

Année:

2017

Langue:

english

Fichier:

PDF, 986 KB

english, 2017

19

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

Année:

2017

Langue:

english

Fichier:

PDF, 179 KB

english, 2017

20

Parental decisions following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong

So, Po Lam, Cheng, Kwun Yue Yvonne, Cheuk, Kwan Yiu, Chiu, Wan Kam, Mak, Shui Lam, Mok, Sau Lan, Lo, Tsz Kin, Yung, Wai Kuen, Lo, Fai Man, Chung, Hon Yin Brian, Kan, Sik Yau Anita, Lee, Chin Peng, Tan

Journal:

Journal of Obstetrics and Gynaecology Research

Année:

2017

Langue:

english

Fichier:

PDF, 300 KB

english, 2017

21

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

Année:

2017

Langue:

english

Fichier:

PDF, 492 KB

english, 2017

22

Spinal Muscular Atrophy With Respiratory Distress Type 1—A Child With Atypical Presentation

Chiu, Annie Ting Gee, Chan, Sophelia Hoi Shan, Wu, Shun Ping, Ting, Shun Hin, Chung, Brian Hon Yin, Chan, Angel On Kei, Wong, Virginia Chun Nei

Journal:

Child Neurology Open

Année:

2018

Langue:

english

Fichier:

PDF, 634 KB

english, 2018

23

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

Année:

2018

Langue:

english

Fichier:

PDF, 1.05 MB

english, 2018

24

Health professionals’ involvement and information provision in genetic counseling following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong

So, Po Lam, Cheng, Kwun Yue Yvonne, Cheuk, Kwan Yiu, Chiu, Wan Kam, Mak, Shui Lam, Mok, Sau Lan, Lo, Tsz Kin, Yung, Wai Kuen, Lo, Fai Man, Chung, Hon Yin Brian, Kan, Sik Yau Anita, Lee, Chin Peng, Tan

Journal:

International Journal of Gynecology & Obstetrics

Année:

2018

Langue:

english

Fichier:

PDF, 338 KB

english, 2018

25

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:

Année:

2019

Langue:

english

Fichier:

PDF, 1.02 MB

english, 2019

26

Training in clinical genetics and genetic counseling in Asia

Cutiongco‐de la Paz, Eva Maria, Chung, Brian Hon‐Yin, Faradz, Sultana M. H., Thong, Meow‐Keong, David‐Padilla, Carmencita, Lai, Poh San, Lin, Shuan‐Pei, Chen, Yin‐Hsiu, Sura, Thanyachai, Laurino, Merc

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2019

Langue:

english

Fichier:

PDF, 1.38 MB

english, 2019

27

Myhre syndrome

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

Journal:

Clinical Dysmorphology

Année:

2019

Fichier:

PDF, 367 KB

2019

28

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

Année:

2020

Langue:

english

Fichier:

PDF, 1.05 MB

english, 2020

29

Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism

Tung, Joanna Yuet-ling, Lai, Sophie Hon Yu, Au, Sandy Leung Kuen, Yeung, Kit San, Kan, Anita Sik Yau, Loong, Florence, DeLeÃ³n, Diva D., Kalish, Jennifer M., Ganguly, Arupa, Chung, Brian Hon Yin, Chan

Journal:

International Journal of Pediatric Endocrinology

Année:

2020

Fichier:

PDF, 2.03 MB

2020