Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Fai Man Lo"'
Autor:
Tsz-sum Wong, Kiran M. Belaramani, Chun-kong Chan, Wing-ki Chan, Wai-lun Larry Chan, Shek-kwan Chang, Sing-ngai Cheung, Ka-yin Cheung, Yuk-fai Cheung, Shuk-ching Josephine Chong, Chi-kwan Jasmine Chow, Hon-yin Brian Chung, Sin-ying Florence Fan, Wai-ming Joshua Fok, Ka-wing Fong, Tsui-hang Sharon Fung, Kwok-fai Hui, Ting-hin Hui, Joannie Hui, Chun-hung Ko, Min-chung Kwan, Mei-kwan Anne Kwok, Sung-shing Jeffrey Kwok, Moon-sing Lai, Yau-on Lam, Ching-wan Lam, Ming-chung Lau, Chun-yiu Eric Law, Wing-cheong Lee, Han-chih Hencher Lee, Chin-nam Lee, Kin-hang Leung, Kit-yan Leung, Siu-hung Li, Tsz-ki Jacky Ling, Kam-tim Timothy Liu, Fai-man Lo, Hiu-tung Lui, Ching-on Luk, Ho-ming Luk, Che-kwan Ma, Karen Ma, Kam-hung Ma, Yuen-ni Mew, Alex Mo, Sui-fun Ng, Wing-kit Grace Poon, Richard Rodenburg, Bun Sheng, Jan Smeitink, Cheuk-ling Charing Szeto, Shuk-mui Tai, Choi-ting Alan Tse, Li-yan Lilian Tsung, Ho-ming June Wong, Wing-yin Winnie Wong, Kwok-kui Wong, Suet-na Sheila Wong, Chun-nei Virginia Wong, Wai-shan Sammy Wong, Chi-kin Felix Wong, Shun-ping Wu, Hiu-fung Jerome Wu, Man-mut Yau, Kin-cheong Eric Yau, Wai-lan Yeung, Hon-ming Jonas Yeung, Kin-keung Edwin Yip, Pui-hong Terence Young, Gao Yuan, Yuet-ping Liz Yuen, Chi-lap Yuen, Cheuk-wing Fung
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Objective To determine the prevalence of mitochondrial diseases (MD) in Hong Kong (HK) and to evaluate the clinical characteristics and genetic landscape of MD patients in the region. Methods This study retrospectively reviewed the phenotypi
Externí odkaz:
https://doaj.org/article/a751dccace7643758afd7f2cea4c2452
Autor:
Kiran Moti Belaramani, Toby Chun Hei Chan, Edgar Wai Lok Hau, Matthew Chun Wing Yeung, Anne Mei Kwun Kwok, Ivan Fai Man Lo, Terry Hiu Fung Law, Helen Wu, Sheila Suet Na Wong, Shirley Wai Lam, Gladys Ha Yin Ha, Toby Pui Yee Lau, Tsz Ki Wong, Venus Wai Ching Or, Rosanna Ming Sum Wong, Wong Lap Ming, Jasmine Chi Kwan Chow, Eric Kin Cheong Yau, Antony Fu, Josephine Shuk Ching Chong, Ho Chung Yau, Grace Wing Kit Poon, Kwok Leung Ng, Kwong Tat Chan, Yuen Yu Lam, Joannie Hui, Chloe Miu Mak, Cheuk Wing Fung
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 23 (2024)
Newborn screening (NBS) is an important public health program that aims to identify pre-symptomatic healthy babies that will develop significant disease if left undiagnosed and untreated. The number of conditions being screened globally is expanding
Externí odkaz:
https://doaj.org/article/9e174954a012423e9418a84e92790b6e
Autor:
Wenjuan Zhu, Chen Wang, Nandita Mullapudi, Yanan Cao, Lin Li, Ivan Fai Man Lo, Stephen Kwok-Wing Tsui, Xiao Chen, Yong Lei, Shen Gu
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-10 (2022)
Abstract Single gene disorders are individually rare but collectively common leading causes of neonatal and pediatric morbidity and mortality. Both parents or the mothers of affected individuals with autosomal recessive or X-linked recessive diseases
Externí odkaz:
https://doaj.org/article/8ce0e5d5ecfa4c0e88127fc033641922
Autor:
Amy Wing-Sze Leung, Henry Chi-Ming Leung, Chak-Lim Wong, Zhen-Xian Zheng, Wui-Wang Lui, Ho-Ming Luk, Ivan Fai-Man Lo, Ruibang Luo, Tak-Wah Lam
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-14 (2022)
Abstract Background The application of long-read sequencing using the Oxford Nanopore Technologies (ONT) MinION sequencer is getting more diverse in the medical field. Having a high sequencing error of ONT and limited throughput from a single MinION
Externí odkaz:
https://doaj.org/article/43de88db4f6541e885194ec45139b230
Autor:
Yuen Ying Poon, Jennifer, Tsz Shun Mok, Myth, Ka Lun Ho, Stephanie, Sze Wing Cheng, Shirley, Fai Man Lo, Ivan, Ho-Ming Luk
Publikováno v:
Clinical Dysmorphology; Jul2024, Vol. 33 Issue 3, p128-133, 6p
Autor:
Ye Cao, Ho Ming Luk, Yanyan Zhang, Matthew Hoi Kin Chau, Shuwen Xue, Shirley S. W. Cheng, Albert Martin Li, Josephine S. C. Chong, Tak Yeung Leung, Zirui Dong, Kwong Wai Choy, Ivan Fai Man Lo
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Structural variations (SVs) are various types of the genomic rearrangements encompassing at least 50 nucleotides. These include unbalanced gains or losses of DNA segments (copy number changes, CNVs), balanced rearrangements (such as inver
Externí odkaz:
https://doaj.org/article/d442877cef694c318e8f2e16eaba1c2f
Autor:
Sheng Mou Lin, Ho Ming Luk, Ivan Fai Man Lo, Wai‐Keung Tam, Kelvin Yuen Kwong Chan, Hei‐Yee Tse, Wing Cheong Leung, Mary Hoi Yin Tang, Anita Sik Yau Kan
Publikováno v:
Clinical Case Reports, Vol 8, Iss 8, Pp 1369-1375 (2020)
Abstract Mosaic variegated aneuploidy (MVA) is a rare genetic disorder caused by mutations in BUB1B, CEP57, or TRIP13. We describe the prenatal diagnosis, molecular characterization, and clinical management of a long‐lived patient with BUB1B‐rela
Externí odkaz:
https://doaj.org/article/5f7d3ec0503c48448b3030a1433f610f
Autor:
Stephanie Ka Lun Ho, Shirley Sze Wing Cheng, Timothy Hua Tse Cheng, Lai-Ting Leung, Emily Kai Yee Lam, Myth Tsz Shun Mok, Ivan Fai Man Lo, Ho-Ming Luk
Publikováno v:
Clinical Dysmorphology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::624380e1877af1ae4f4507181690ac56
https://doi.org/10.1097/mcd.0000000000000462
https://doi.org/10.1097/mcd.0000000000000462
Autor:
Min Ou, Henry Chi-Ming Leung, Amy Wing-Sze Leung, Ho-Ming Luk, Bin Yan, Chi-Man Liu, Tony Ming-For Tong, Myth Tsz-Shun Mok, Wallace Ming-Yuen Ko, Wai-Chun Law, Tak-Wah Lam, Ivan Fai-Man Lo, Ruibang Luo
Publikováno v:
NAR Genomics and Bioinformatics. 4
HKG is the first fully accessible variant database for Hong Kong Cantonese, constructed from 205 novel whole-exome sequencing data. There has long been a research gap in the understanding of the genetic architecture of southern Chinese subgroups, inc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b76f24717c9f074b4c73962b42ec065d
https://doi.org/10.1093/nargab/lqac005
https://doi.org/10.1093/nargab/lqac005
Autor:
Ye Cao, Ho Ming Luk, Yanyan Zhang, Matthew Hoi Kin Chau, Shuwen Xue, Shirley S. W. Cheng, Albert Martin Li, Josephine S. C. Chong, Tak Yeung Leung, Zirui Dong, Kwong Wai Choy, Ivan Fai Man Lo
Publikováno v:
Frontiers in genetics. 13
Background: Structural variations (SVs) are various types of the genomic rearrangements encompassing at least 50 nucleotides. These include unbalanced gains or losses of DNA segments (copy number changes, CNVs), balanced rearrangements (such as inver
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f693159d96d2d680f7060945ec6a42f5
https://pubmed.ncbi.nlm.nih.gov/35495136
https://pubmed.ncbi.nlm.nih.gov/35495136