Search Results - "Yu, Pui‐Tak"

Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications by Yu, Pui‐Tak, Shu, Wendy, Mok, Sau‐Lan, Hui, Pui‐Wah, Chan, Lin‐Wai, Kwok, Ka‐Yin, Chan, Kelvin Y. K., Lo, Tsz‐Kin, Chung, Brian H. Y., Luk, Ho‐Ming, Kan, Anita S. Y.

“…Beckwith Wiedemann Syndrome (BWS, OMIM 130650) is an imprinting disorder that may present antenatally with a constellation of sonographic features namely…”
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Myhre syndrome: a report of six Chinese patients and literature review by Yu, Kris Pui-Tak, Luk, Ho-Ming, Chung, Brian Hon-Yin, Lo, Ivan Fai-Man

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Rotavirus vaccine effectiveness in Hong Kong children by Yeung, Karene Hoi Ting, BSc, Tate, Jacqueline E., PhD, Chan, Ching Ching, MBChB, FHKAM, FHKCPaed, Chan, Martin C.W., PhD, Chan, Paul K.S., MBBS, MSc, MD, FRCPath, FHKCPath, FHKAM, Poon, Kin Hung, MBBS, FHKAM, FHKCPaed, Siu, Sylvia Luen Yee, MBChB, FHKAM, FHKCPaed, Fung, Genevieve Po Gee, MBBChir, FHKAM, FHKCPaed, Ng, Kwok Leung, MBBS, FHKAM, FHKCPaed, FRCP, Chan, Iris Mei Ching, MBBS, FHKAM, Yu, Pui Tak, MBBS, Ng, Chi Hang, MBBS, FHKAM, FHKCPaed, Lau, Yu Lung, MBChB, MD, FRCPCH, FHKAM, FHKCPaed, Nelson, E. Anthony S., MBChB, MD, FRCP, FRCPCH, FHKCPaed

“…Highlights • Rotavirus vaccine was 89%–96% effective in preventing rotavirus hospitalisations. • Vaccine effectiveness in Hong Kong is similar to that in other…”
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Prenatal phenotype of Kabuki syndrome: A case series and literature review by So, Po Lam, Luk, Ho Ming, Cheung, Ka Wang, Hui, Winnie, Chung, Man Yan, Mak, Annisa S. L., Lok, Wing Yi, Yu, Kris Pui Tak, Cheng, Shirley S. W., Hau, Edgar W. L., Ho, Stephanie, Lam, Stephen T. S., Lo, Ivan F. M.

“…Objectives Kabuki syndrome (KS) is a genetic disorder characterized by intellectual disability, facial dysmorphism and congenital anomalies. We aim to…”
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Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions by Yu, Kris Pui-Tak, Luk, Ho-Ming, Fung, Jasmine L.F., Chung, Brian Hon-Yin, Lo, Ivan Fai-Man

“…Bainbridge-Ropers syndrome (BRPS) [OMIM#615485] is a neurodevelopmental disorder, characterized by delayed psychomotor development with generalized hypotonia,…”
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Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31‐year‐old woman by Yu, Pui Tak, Luk, Ho‐ming, Mok, Myth T, Lo, FM Ivan

“…Mandibular hypoplasia, deafness, progeroid feature, and lipodystrophy syndrome (MDPL, MIM# 615381) is an extremely rare and recently recognized early adult…”
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Rubinstein‐Taybi syndrome in Chinese population with four novel mutations by Yu, Pui Tak, Luk, Ho‐Ming, Lo, Ivan F. M.

“…Rubinstein‐Taybi syndrome (RSTS, OMIM*180849) is a rare autosomal dominant disorder, characterized by distinctive facial features, short stature, broad and…”
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Rubinstein-Taybi syndrome in Chinese population with four novel mutations by Yu, Pui Tak, Luk, Ho-Ming, Lo, Ivan F M

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Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome-An unexpected diagnosis of androgenetic chimera and its clinical implications by Yu, Pui-Tak, Shu, Wendy, Mok, Sau-Lan, Hui, Pui-Wah, Chan, Lin-Wai, Kwok, Ka-Yin, Chan, Kelvin Y K, Lo, Tsz-Kin, Chung, Brian H Y, Luk, Ho-Ming, Kan, Anita S Y

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