Zobrazeno 1 - 10
of 18
pro vyhledávání: '"A S Y, Kan"'
Autor:
Mianne Lee, Adrian C. Y. Lui, Joshua C. K. Chan, Phoenix H. L. Doong, Anna K. Y. Kwong, Christopher C. Y. Mak, Raymond H. W. Li, Anita S. Y. Kan, Brian H. Y. Chung
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-14 (2023)
Abstract Mosaicism refers to the presence of two or more populations of genetically distinct cells within an individual, all of which originate from a single zygote. Previous literature estimated the percentage of parental mosaicism ranged from 0.33
Externí odkaz:
https://doaj.org/article/ac8c484edeef4b69839a418b96ebad40
Autor:
Mianne Lee, Anna K. Y. Kwong, Martin M. C. Chui, Jeffrey F. T. Chau, Christopher C. Y. Mak, Sandy L. K. Au, Hei Man Lo, Kelvin Y. K. Chan, Vicente A. Yépez, Julien Gagneur, Anita S. Y. Kan, Brian H. Y. Chung
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-10 (2022)
Abstract RNA sequencing (RNA-seq) is emerging in genetic diagnoses as it provides functional support for the interpretation of variants of uncertain significance. However, the use of amniotic fluid (AF) cells for RNA-seq has not yet been explored. He
Externí odkaz:
https://doaj.org/article/0ab33a9da48e45f390b24d43dc3b0085
Autor:
Kunfeng Bai, Cheuk-Lun Lee, Xiaofeng Liu, Jianlin Li, Dandan Cao, Li Zhang, Duanlin Hu, Hong Li, Yanqing Hou, Yue Xu, Anita S. Y. Kan, Ka-Wang Cheung, Ernest H. Y. Ng, William S. B. Yeung, Philip C. N. Chiu
Publikováno v:
Journal of Nanobiotechnology, Vol 20, Iss 1, Pp 1-16 (2022)
Abstract Background The maternal immune system needs to tolerate the semi-allogeneic fetus in pregnancy. The adaptation occurs locally at the maternal–fetal interface as well as systemically through the maternal circulation. Failure to tolerate the
Externí odkaz:
https://doaj.org/article/7677d8c8db754b7aa025e5904f8f0d3c
Autor:
Kit San Yeung, Florrie N. Y. Yu, Cheuk Wing Fung, Sheila Wong, Hencher H. C. Lee, Sharon T. H. Fung, Genevieve P. G. Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K. S. Ng, Mullin H. C. Yu, Jasmine L. F. Fung, Mandy H. Y. Tsang, Kelvin Y. K. Chan, Sophelia H. S. Chan, Anita S. Y. Kan, Brian H. Y. Chung
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Abstract Background Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy. The KLHL40 c.1516A>C variant has recently been reported as a founder mutation
Externí odkaz:
https://doaj.org/article/8b47cc4e100149eabcf38a90b8391572
Autor:
Gordon K C Leung, Christopher C Y Mak, Jasmine L F Fung, Wilfred H S Wong, Mandy H Y Tsang, Mullin H C Yu, Steven L C Pei, K S Yeung, Gary T K Mok, C P Lee, Amelia P W Hui, Mary H Y Tang, Kelvin Y K Chan, Anthony P Y Liu, Wanling Yang, P C Sham, Anita S Y Kan, Brian H Y Chung
Publikováno v:
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-10 (2018)
Abstract Background Whole-exome sequencing (WES) has become an invaluable tool for genetic diagnosis in paediatrics. However, it has not been widely adopted in the prenatal setting. This study evaluated the use of WES in prenatal genetic diagnosis in
Externí odkaz:
https://doaj.org/article/282d5793434f48b0ae2433ea3829b919
Autor:
Pui‐Tak Yu, Wendy Shu, Sau‐Lan Mok, Pui‐Wah Hui, Lin‐Wai Chan, Ka‐Yin Kwok, Kelvin Y. K. Chan, Tsz‐Kin Lo, Brian H. Y. Chung, Ho‐Ming Luk, Anita S. Y. Kan
Publikováno v:
American Journal of Medical Genetics Part A. 188:1562-1567
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5805636e983e12a16e6df367c8363157
https://doi.org/10.1002/ajmg.a.62665
https://doi.org/10.1002/ajmg.a.62665
Publikováno v:
Hong Kong medical journal = Xianggang yi xue za zhi. 28(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ac9ed073f91062ab725b03658cbc2af2
https://pubmed.ncbi.nlm.nih.gov/35260506
https://pubmed.ncbi.nlm.nih.gov/35260506
Generic Energy Matching Model and Figure of Matching Algorithm for Combined Renewable Energy Systems
Autor:
S. Y. Kan, J.C. Brezet
Publikováno v:
Journal of Systemics, Cybernetics and Informatics, Vol 7, Iss 4, Pp 44-50 (2009)
In this paper the Energy Matching Model and Figure of Matching Algorithm which originally was dedicated only to photovoltaic (PV) systems [1] are extended towards a Model and Algorithm suitable for combined systems which are a result of integration o
Externí odkaz:
https://doaj.org/article/d69f332e17f14ad4801c6c4d55a86d2a
Autor:
Victoria Q Tao, Kelvin Y K Chan, Yoyo W Y Chu, Gary T K Mok, Tiong Y Tan, Wanling Yang, So Lun Lee, Wing Fai Tang, Winnie W Y Tso, Elizabeth T Lau, Anita S Y Kan, Mary H Tang, Yu-Lung Lau, Brian H Y Chung
Publikováno v:
PLoS ONE, Vol 9, Iss 10, p e109629 (2014)
ObjectiveTo evaluate the clinical impact of chromosomal microarray (CMA) on the management of paediatric patients in Hong Kong.MethodsWe performed NimbleGen 135k oligonucleotide array on 327 children with intellectual disability (ID)/developmental de
Externí odkaz:
https://doaj.org/article/79857b3efbda47418f8eb9893146c04e
Autor:
Anita S Y Kan, Elizabeth T Lau, W F Tang, Sario S Y Chan, Simon C K Ding, Kelvin Y K Chan, C P Lee, Pui Wah Hui, Brian H Y Chung, K Y Leung, Teresa Ma, Wing C Leung, Mary H Y Tang
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e87988 (2014)
OBJECTIVE: To evaluate the effectiveness of whole-genome array comparative genomic hybridization (aCGH) in prenatal diagnosis in Hong Kong. METHODS: Array CGH was performed on 220 samples recruited prospectively as the first-tier test study. In addit
Externí odkaz:
https://doaj.org/article/48ea845e986b4bd1bb68f78622079203