Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Gary Tsz Kin Mok"'
Autor:
Annisa Shui Lam Mak, Annie Ting Gee Chiu, Gordon Ka Chun Leung, Christopher Chun Yu Mak, Yoyo Wing Yiu Chu, Gary Tsz Kin Mok, Wing Fai Tang, Kelvin Yuen Kwong Chan, Mary Hoi Yin Tang, Elizabeth Tak-Kwong Lau Yim, Kin Wai So, Victoria Qinchen Tao, Cheuk Wing Fung, Virginia Chun Nei Wong, Mohammed Uddin, So Lun Lee, Christian R. Marshall, Stephen W. Scherer, Anita Sik Yau Kan, Brian Hon Yin Chung
Publikováno v:
Molecular Autism, Vol 8, Iss 1, Pp 1-12 (2017)
Abstract Background Array comparative genomic hybridization (aCGH) is recommended as a first-tier genetic test for children with autism spectrum disorder (ASD). However, interpretation of results can often be challenging partly due to the fact that c
Externí odkaz:
https://doaj.org/article/f4d95ed70644412987ce07feaa2f58c6
Autor:
David Francis, Yves Sznajer, Lieve Vanwalleghem, Jennifer Kussmann, David A. Bateman, Gael E. Phillips, Scott A. Anderson, Elizabeth K. Fiorino, Przemyslaw Szafranski, Kamilla Schlade-Bartusiak, Neil J. Sebire, Pablo Lapunzina, Maya Chopra, Urvashi Surti, Isabelle Maystadt, Oliver Quarrell, Partha Sen, Jill Slamon, Avinash V. Dharmadhikari, Philippe Moerman, Liesbeth Spruijt, Dick Tibboel, Susan Arbuckle, Glenda Hendson, Jennifer Schuette, Nicole de Leeuw, Melissa Lees, Namasivayam Ambalavanan, Annelies de Klein, Svetlana A. Yatsenko, Joel Reiter, Joseph T. Shieh, Sandra Janssens, Gregory Peters, Jessica Sebastian, David R. Kelly, Eitan Kerem, Janet Lioy, Martina Owens, Gary Tsz Kin Mok, Carlos A. Bacino, Amy S. Lay, Shalini N. Jhangiani, Suneeta Madan-Khetarpal, Björn Menten, Elizabeth Roeder, Kadir C. Akdemir, Denise A. Hayes, Laurie A. Steiner, Taryn C. Rosenthal, Richard Sayers, Fernando Santos-Simarro, Ashley Wilson, Joyce E. Fox, Yoyo W. Y. Chu, Richard Fisher, Rebecca O. Littlejohn, Daynna J. Wolff, Wai Lap Wong, Timothy Thiruchelvam, Kristin Scheible, Zoe Mead, Eileen McKay, M. Anwar Iqbal, Erwin Brosens, Melinda H. Markham, Julián Nevado, Anne Loccufier, Rosanna G. Abellar, Tomasz Gambin, Charles Shaw-Smith, Alison Yeung, Pawel Stankiewicz, Nihal Godiwala, Elfride De Baere, Ilse Feenstra, Diane J. Payton, Girvan Malcolm, María Palomares, Morris Edelman, Claire Langston, Thomas S. DeNapoli, Margaret L. McKinnon, Carol L. Wagner, Brian H.Y. Chung, James R. Lupski, Dawn English, Alison Male, Edwina J. Popek, Frances Elmslie, Jasneek Chawla, Sara Jane Hamilton, Jason Pinner
Publikováno v:
Human Genetics, 135, 5, pp. 569-86
Human Genetics, 135(5), 569-586. Springer-Verlag
Human Genetics, 135, 569-86
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Human Genetics, 135(5), 569-586. Springer-Verlag
Human Genetics, 135, 569-86
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Contains fulltext : 168023.pdf (Publisher’s version ) (Closed access) Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy
Autor:
Gary Tsz Kin Mok, Gordon K.C. Leung, Mohammed Uddin, Christopher C.Y. Mak, Annie Ting Gee Chiu, Virginia Wong, Cheuk Wing Fung, Christian R. Marshall, Kin Wai So, Brian H.Y. Chung, Mary Hoi Yin Tang, Annisa Shui Lam Mak, So Lun Lee, WF Tang, Yoyo W. Y. Chu, Stephen W. Scherer, Victoria Qinchen Tao, Elizabeth Tak-Kwong Lau Yim, Kelvin Y.K. Chan, Anita Sik Yau Kan
Publikováno v:
Molecular Autism
Molecular Autism, Vol 8, Iss 1, Pp 1-12 (2017)
Molecular Autism, Vol 8, Iss 1, Pp 1-12 (2017)
Background Array comparative genomic hybridization (aCGH) is recommended as a first-tier genetic test for children with autism spectrum disorder (ASD). However, interpretation of results can often be challenging partly due to the fact that copy numbe
Autor:
Brian H.Y. Chung, Chun Bong Chow, Winnie Ka Yan Mok, Yoyo W. Y. Chu, Patrick Ip, Gary Tsz Kin Mok, Frederick K. Ho, Wilfred Hing Sang Wong
Publikováno v:
Health and Quality of Life Outcomes
Objectives The objectives of the study were (1) to validate the Chinese version of Health Utilities Index (HUI-Ch); (2) to examine the Health-related Quality of Life (HRQoL) of Chinese subjects with Down syndrome (DS); and (3) to study the impact of
Autor:
Winnie Ka Yan Mok, Wilfred Hing-Sang Wong, Gary Tsz Kin Mok, Yoyo Wing Yiu Chu, Frederick Ka Wing Ho, Chun Bong Chow, Patrick Ip, Brian Hon-Yin Chung
Publikováno v:
Health & Quality of Life Outcomes; 2014, Vol. 12 Issue 1, p1-18, 18p