Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Brian Hon-yin Chung"'
Autor:
Brian Hon-Yin Chung, Anna Ka Yee Kwong, Martin Man Chun Chui, Christopher CY Mak, Ines Scheller, Sheila Suet-Na Wong, Cheuk-Wing Fung, Vicente Yépez
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101019- (2024)
Externí odkaz:
https://doaj.org/article/2358715853e7449d81ca1ac3b61a24f1
Autor:
Kevin Booth, Sharayu Jangam, Martin Man Chun Chui, Kayla Treat, Lorenzo Graziani, Alessia Soldano, Kerry White, Celanie Christensen, Ty Lynnes, Shinya Yamamoto, Oguz Kanca, Mandy Tsang, Sally Lynch, Sureni Mullegama, Julia Baptista, Daniela Iancu, Shelag Joss, Christopher CY Mak, Anna Kwong, Hugo Bellen, Erin Conboy, Remo Sanges, Michael F. Wangler, Brian Hon-Yin Chung, Francesco Vetrini
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101494- (2024)
Externí odkaz:
https://doaj.org/article/f55f71aa0f3040a5a34c8dbdffa4fbb9
Autor:
Hannah Klinkhammer, Hellen Lesmann, Shahida Moosa, Alexander Hustinx, Behnam Javanmardi, Jing-Mei Li, Martin M.C. Chui, Christopher C.Y. Mak, Luisa Averdunk, Felix Distelmaier, Brian Hon-Yin Chung, Peter Krawitz, Tzung-Chien Hsieh
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100113- (2023)
Externí odkaz:
https://doaj.org/article/ac937ab2e8ff436880dd772dbcb45d4b
Autor:
Jeffrey Fong Ting Chau, Mianne Lee, Martin Man Chun Chui, Mullin Ho Chung Yu, Jasmine Lee Fong Fung, Christopher Chun Yu Mak, Christy Shuk-Kuen Chau, Ka Ka Siu, Jacqueline Hung, Kit San Yeung, Anna Ka Yee Kwong, Christopher O'Callaghan, Yu Lung Lau, Chun-Wai Davy Lee, Brian Hon-Yin Chung, So-Lun Lee
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Bronchiectasis is the abnormal dilation of the airway which may be caused by various etiologies in children. Beyond the more recognized cause of bacterial and viral infections and primary immunodeficiencies, other genetic conditions such as cystic fi
Externí odkaz:
https://doaj.org/article/1354567d67c147fb8a3fb1d9e75939ea
Autor:
Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J. T. Rodenburg, Monkol Lek, Shushu Huang, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Sharon Fung, Kam-Tim Liu, Che-Kwan Ma, Sheila Wong, Eric Kin-Cheong Yau, Shuk-Mui Tai, Eva Lai-Wah Fung, Nick Shun-Ping Wu, Li-Yan Tsung, Jan Smeitink, Brian Hon-Yin Chung, Cheuk-Wing Fung
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Abstract Background Movement disorders are a group of heterogeneous neurological diseases including hyperkinetic disorders with unwanted excess movements and hypokinetic disorders with reduction in the degree of movements. The objective of our study
Externí odkaz:
https://doaj.org/article/a75fac8f007d420a85ab11522cca237a
Autor:
Sophie H.Y. Lai, Jaime S. Rosa Duque, Brian Hon-Yin Chung, Tom Wai-Hin Chung, Daniel Leung, Ronnie Siu-Lun Ho, Raymand Lee, Rosana W.S. Poon, Gilbert T. Chua, Kai-Ning Cheong, Martin Man Chun Chui, Mianne Lee, Sidney Tam, Andrew Ho Cheuk Him, King-Fai Cheng, Wilson Wai-Shing Ho, Kwok-Yung Yuen, Pamela Lee, Yu-Lung Lau
Publikováno v:
International Journal of Infectious Diseases, Vol 107, Iss , Pp 59-61 (2021)
We report this rare case of cerebral phaeohyphomycosis in a previously healthy Chinese boy, who was found to have caspase recruitment domain family member 9 (CARD9) deficiency. Initial radiological features suggested a neoplastic cerebral lesion, whi
Externí odkaz:
https://doaj.org/article/c089714f10e94aff8d8f3ffb50e5706f
Publikováno v:
Case Reports in Endocrinology, Vol 2020 (2020)
Background. While the endocrine manifestations of pseudohypoparathyroidism are well known, less is known about the associated brain and spine abnormalities. These abnormalities may present with nonspecific symptoms in the paediatric population, and l
Externí odkaz:
https://doaj.org/article/411b8b3308cb41fa8dd6f5cd14444316
Autor:
Kit San Yeung, Winnie Wan Yee Tso, Janice Jing Kun Ip, Christopher Chun Yu Mak, Gordon Ka Chun Leung, Mandy Ho Yin Tsang, Dingge Ying, Steven Lim Cho Pei, So Lun Lee, Wanling Yang, Brian Hon-Yin Chung
Publikováno v:
Molecular Autism, Vol 8, Iss 1, Pp 1-11 (2017)
Abstract Background Macrocephaly, which is defined as a head circumference greater than or equal to + 2 standard deviations, is a feature commonly observed in children with developmental delay and/or autism spectrum disorder. Although PTEN is a well-
Externí odkaz:
https://doaj.org/article/9b94f5a06273458588cf48e2ab2e0cf9
Autor:
Kit San Yeung, Brian Hon-Yin Chung, Sanaa Choufani, Mo Yin Mok, Wai Lap Wong, Christopher Chun Yu Mak, Wanling Yang, Pamela Pui Wah Lee, Wilfred Hing Sang Wong, Yi-An Chen, Daria Grafodatskaya, Raymond Woon Sing Wong, Chak Sing Lau, Daniel Tak Mao Chan, Rosanna Weksberg, Yu-Lung Lau
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0169553 (2017)
Epigenetic variants have been shown in recent studies to be important contributors to the pathogenesis of systemic lupus erythematosus (SLE). Here, we report a 2-step study of discovery followed by replication to identify DNA methylation alterations
Externí odkaz:
https://doaj.org/article/b090587e36d84b6b928aff6f36869b29
Publikováno v:
Journal of the Formosan Medical Association, Vol 113, Iss 7, Pp 400-408 (2014)
Genomic research can lead to discoveries of copy number variations (CNVs) which can be a susceptibility factor for autism spectrum disorder (ASD). The clinical translation is that this can improve the care of children with ASD. Chromosome microarray
Externí odkaz:
https://doaj.org/article/a8d05040c7e44bfca6e45bd89e015024