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ArticlesPeer ReviewedFull Text
"Using dried blood spots beyond newborn screening - is Hong Kong ready?": navigating the intersection of innovation readiness, privacy concerns, and Chinese parenting culture
Author / Creator:Ngan, Olivia Miu Yung ; Fung, Cheuk Wing ; Kwok, Mei Kwun ; Yau, Eric Kin Cheong ; Lee, Shing Yan Robert ; Luk, Ho-Ming ; Belaramani, Kiran Moti
Publisher:England: BioMed Central Ltd
Journal title:BMC public health, 2024-10, Vol.24 (1), p.2973-11, Article 2973
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ArticlesPeer ReviewedFull Text
Exome sequencing in paediatric patients with movement disorders
Author / Creator:Kwong, Anna Ka-Yee ; Tsang, Mandy Ho-Yin ; Fung, Jasmine Lee-Fong ; Mak, Christopher Chun-Yu ; Chan, Kate Lok-San ; Rodenburg, Richard J T ; Lek, Monkol ; Huang, Shushu ; Pajusalu, Sander ; Yau, Man-Mut ; Tsoi, Cheung ; Fung, Sharon ; Liu, Kam-Tim ; Ma, Che-Kwan ; Wong, Sheila ; Yau, Eric Kin-Cheong ; Tai, Shuk-Mui ; Fung, Eva Lai-Wah ; Wu, Nick Shun-Ping ; Tsung, Li-Yan ; Smeitink, Jan ; Chung, Brian Hon-Yin ; Fung, Cheuk-Wing
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.32-32, Article 32
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ArticlesPeer ReviewedFull Text
Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese
Author / Creator:Lee, Han-Chih Hencher ; Wong, Shun ; Leung, Frank Ying-Kit ; Ho, Luen-Cheung ; Chan, Siu-Ki Timothy ; Fung, Tsui-Hang Sharon ; Kwan, Kwok-Fan ; Yau, Kin-Cheong Eric ; Li, Ka-Wah ; Yau, Wai-Nang ; Leung, Hoi-Ki Cynthia ; Chen, Sammy Pak-Lam ; Mak, Chloe Miu
Publisher:England: by American Association of Neuropathologists, Inc
Journal title:Journal of neuropathology and experimental neurology, 2019-09, Vol.78 (9), p.854-864
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ArticlesPeer ReviewedFull Text
Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype
Author / Creator:Au, Lisa Wing Chi ; Lee, Hencher Han Chih ; Sheng, Bun ; Chan, Kwok Yin ; Yau, Eric Kin Cheong ; Mak, Chloe Miu ; Chan, Albert Yan Wo ; Chan, Anne Yin Yan ; Lau, Claire Ka Yee ; Mok, Vincent Chung Tong ; Lam, Ching Wan
Publisher:Netherlands: Elsevier B.V
Journal title:Clinical neurology and neurosurgery, 2020-12, Vol.199, p.106258-106258, Article 106258
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ArticlesPeer ReviewedFull Text
Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong
Author / Creator:Belaramani, Kiran Moti ; Fung, Cheuk Wing ; Kwok, Anne Mei Kwun ; Lee, Shing Yan Robert ; Yau, Eric Kin Cheong ; Luk, Ho Ming ; Mak, Chloe Miu ; Yeung, Matthew Chun Wing ; Ngan, Olivia Miu Yung
Publisher:Basel: MDPI AG
Journal title:International journal of neonatal screening, 2023-08, Vol.9 (3), p.45
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ArticlesPeer ReviewedFull Text
Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad
Author / Creator:Gloria Pang, Shir Wey ; Chih Lee, Hencher Han ; Ng Wing kei, Carol ; Yau, Eric Kin Cheong ; Hui, Joannie
Publisher:United States: Hindawi
Journal title:Case reports in genetics, 2022-04, Vol.2022, p.4153357-8
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ArticlesPeer ReviewedFull Text
Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients
Author / Creator:Sheng, Bun ; Chu, Yim Pui ; Wong, Wa Tai ; Yau, Eric Kin Cheong ; Chen, Sammy Pak Lam ; Luk, Wing Hang
Publisher:England: BioMed Central Ltd
Journal title:BMC research notes, 2017-07, Vol.10 (1), p.351-351, Article 351
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ArticlesPeer ReviewedFull Text
Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey
Author / Creator:Belaramani, Kiran Moti ; Chan, Toby Chun Hei ; Hau, Edgar Wai Lok ; Yeung, Matthew Chun Wing ; Kwok, Anne Mei Kwun ; Lo, Ivan Fai Man ; Law, Terry Hiu Fung ; Wu, Helen ; Wong, Sheila Suet Na ; Lam, Shirley Wai ; Ha, Gladys Ha Yin ; Lau, Toby Pui Yee ; Wong, Tsz Ki ; Or, Venus Wai Ching ; Wong, Rosanna Ming Sum ; Ming, Wong Lap ; Chow, Jasmine Chi Kwan ; Yau, Eric Kin Cheong ; Fu, Antony ; Chong, Josephine Shuk Ching ; Yau, Ho Chung ; Poon, Grace Wing Kit ; Ng, Kwok Leung ; Chan, Kwong Tat ; Lam, Yuen Yu ; Hui, Joannie ; Mak, Chloe Miu ; Fung, Cheuk Wing
Publisher:Switzerland: MDPI AG
Journal title:International journal of neonatal screening, 2024-03, Vol.10 (1), p.23
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ArticlesPeer ReviewedFull Text
Successful Adaptation of Targeted Gene Panel Next-Generation Sequencing in Regional Hospital in Hong Kong: Genomic Diagnosis of SCN2A-Related Seizure Disorder
Author / Creator:Lee, Han-Chih ; Lau, Nike ; Yeung, Chun-Wing ; Ng, Sui-Fun ; Yau, Kin-Cheong ; Mak, Chloe
Publisher:China: Wolters Kluwer India Pvt. Ltd
Journal title:Chinese medical journal, 2018-09, Vol.131 (18), p.2262-2264
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ArticlesPeer ReviewedFull Text
Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong
Author / Creator:Siu, Wai-Kwan ; Lam, Ching-Wan ; Mak, Chloe Miu ; Lau, Elizabeth Tak-Kwong ; Tang, Mary Hoi-Yin ; Tang, Wing-Fai ; Poon-Mak, Rachel Sui-Man ; Lee, Chi-Chiu ; Hung, Se-Fong ; Leung, Patrick Wing-Leung ; Kwong, Karen Ling ; Yau, Eric Kin-Cheong ; Ng, Grace Sui-Fun ; Fong, Nai-Chung ; Chan, Kwok-Yin
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Clinical and translational medicine, 2016-05, Vol.5 (1), p.1-8
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ReportsFull Text
Kearns-Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad
Author / Creator:Gloria Pang, Shir Wey ; Chih Lee, Hencher Han ; Ng Wing Kei, Carol ; Yau, Eric Kin Cheong ; Hui, Joannie
Journal title:Case reports in genetics, 2022, Vol.2022, p.4153357-4153357
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Text ResourcesFull Text
Exome Sequencing in Paediatric Patients with Movement Disorders with Treatment Possibilities
Author / Creator:Anna Ka-Yee Kwong ; Mandy Ho-Yin Tsang ; Jasmine Lee-Fong Fung ; Christopher Chun-Yu Mak ; Kate Lok-San Chan ; Richard J.T. Rodenburg ; Lek, Monkol ; Huang, Shushu ; Sander Pajusalu ; Man-Mut Yau ; Cheung Tsoi ; Fung, Sharon ; Liu, Kam-Tim ; Che-Kwan, Ma ; Wong, Sheila ; Yau, Eric Kin-Cheong ; Shuk-Mui Tai ; Fung, Eva Lai-Wah ; Wu, Nick Shun-Ping ; Li-Yan, Tsung ; Smeitink, Jan ; Brian Hon-Yin Chung ; Cheuk-Wing Fung
Publisher:Durham: Research Square
Journal title:Orphanet Journal of Rare Diseases, 2020
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"Using dried blood spots beyond newborn screening - is Hong Kong ready?": navigating the intersection of innovation readiness, privacy concerns, and Chinese parenting culture

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Exome sequencing in paediatric patients with movement disorders

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Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese

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Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype

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Public and Healthcare Provider Receptivity toward the Retention of Dried Blood Spot Cards and Their Usage for Extended Genetic Testing in Hong Kong

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Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad

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Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients

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Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey

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Successful Adaptation of Targeted Gene Panel Next-Generation Sequencing in Regional Hospital in Hong Kong: Genomic Diagnosis of SCN2A-Related Seizure Disorder

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Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong

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Kearns-Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad

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Exome Sequencing in Paediatric Patients with Movement Disorders with Treatment Possibilities

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