Search Results - "Chan, Daniel H C"

Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong by Luk, H M, Lo, Ivan F M, Fu, K H, Lui, Colin H T, Tong, Tony M F, Chan, Daniel H C, Lam, Stephen T S

“…Despite the advances in the understanding of the molecular basis for oculopharyngeal muscular dystrophy in the last decade, it remains an underdiagnosed…”
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Congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation: first case report from Hong Kong by Luk, H M, Lo, Ivan F M, Lai, Carmen W S, Ma, Louis C K, Tong, Tony M F, Chan, Daniel H C, Lam, Stephen T S

“…With the advancement of ophthalmological genetics, the molecular basis for more and more eye diseases can be elucidated. Congenital fibrosis of extraocular…”
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Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T in RMRPgene by Lam, Albert C. F., Chan, Daniel H. C., Tong, Tony M. F., Tang, Mary H. Y., Lo, Steven Y. F., Lo, Ivan F. M., Lam, Stephen T. S.

“…We present the first confirmed case by molecular analysis of a metaphyseal chondrodysplasia, McKusick type, in a 22‐week fetus. Two novel compound heterozygous…”
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Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T>A and 79G>T in RMRP gene by LAM, Albert C. F, CHAN, Daniel H. C, TONG, Tony M. F, TANG, Mary H. Y, LO, Steven Y. F, LO, Ivan F. M, LAM, Stephen T. S

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Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome by Tong, Tony M F, Hau, Edgar W L, Lo, Ivan F M, Chan, Daniel H C, Lam, Stephen T S

“…Background Sotos syndrome is an overgrowth syndrome with characteristic facial gestalt and mental retardation of variable severity. Haploinsufficiency of the…”
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Prader–Willi Syndrome: 16-Year Experience in Hong Kong by Lo, Ivan F.M., Luk, Ho Ming, Tong, Tony M.F., Lai, Kent K.S., Chan, Daniel H.C., Lam, Albert C.F., Chan, David K.H., Hau, Edgar W.L., Fung, Connie O.Y., Lam, Stephen T.S.

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Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong by Luk, HM, Lo, Ivan FM, Fu, KH, Lui, Colin HT, Tong, Tony MF, Chan, Daniel HC, Lam, Stephen TS

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Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T inRMRPgene by Lam, Albert C. F., Chan, Daniel H. C., Tong, Tony M. F., Tang, Mary H. Y., Lo, Steven Y. F., Lo, Ivan F. M., Lam, Stephen T. S.

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Outcome analysis of management of liver trauma: A 10-year experience at a trauma center by She, Wong Hoi, Cheung, Tan To, Dai, Wing Chiu, Tsang, Simon H Y, Chan, Albert C Y, Tong, Daniel K H, Leung, Gilberto K K, Lo, Chung Mau

“…AIM: To review the outcomes of liver trauma in patients with hepatic injuries only and in patients with associated injuries outside the liver.METHODS: Data of…”
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Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T in RMRPgene by Lam, Albert C. F., Chan, Daniel H. C., Tong, Tony M. F., Tang, Mary H. Y., Lo, Steven Y. F., Lo, Ivan F. M., Lam, Stephen T. S.

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