A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia von Tsoi, Ho, Yu, Allen C S, Chen, Zhefan S, Ng, Nelson K N, Chan, Anne Y Y, Yuen, Liz Y P, Abrigo, Jill M, Tsang, Suk Ying, Tsui, Stephen K W, Tong, Tony M F, Lo, Ivan F M, Lam, Stephen T S, Mok, Vincent C T, Wong, Lawrence K S, Ngo, Jacky C K, Lau, Kwok-Fai, Chan, Ting-Fung, Chan, H Y Edwin

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Oculopharyngeal muscular dystrophy: underdiagnosed disease in Hong Kong von 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

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A young woman with mucocutaneous pigmentation and intestinal polyps von Luk, H M, Lo, Ivan F M, Yu, Kelvin M C, Tong, Tony M F, Lam, Stephen T S

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Congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation: first case report from Hong Kong von 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

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PROTEOLIPID PROTEIN 1 GENE MUTATION IN CHINESE PATIENTS WITH PELIZAEUS-MERZBACHER DISEASE von Jiang, Yuwu, Wang, Jingmin, Wu, Ye, Tong, Tony M. F., Lam, Stephen T. S., Yang, Yanling, Qin, Jiong, Wu, Xiru

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Silver-Russell syndrome in Hong Kong von Luk, H M, Yeung, K S, Wong, W L, Chung, B Hy, Tong, T Mf, Lo, I Fm

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The nail points to the diagnosis von Tong, Stephanie YK, Luk, HM, Tong, Tony MF, Lo, Ivan FM

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Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T in RMRPgene von 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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Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T>A and 79G>T in RMRP gene von 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 von Tong, Tony M F, Hau, Edgar W L, Lo, Ivan F M, Chan, Daniel H C, Lam, Stephen T S

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Prader–Willi Syndrome: 16-Year Experience in Hong Kong von 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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The nail points to the diagnosis. Fong disease or hereditary osteo-onychodysplasia von Tong, Stephanie Y K, Luk, H M, Tong, Tony M F, Lo, Ivan F M

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Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA) von Lai, Kent K.S., Lo, Ivan F.M., Tong, Tony M.F., Cheng, Lydia Y.L., Lam, Stephen T.S.

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

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Birt-Hogg-Dubé syndrome: a rare cause of familial spontaneous pneumothorax von Luk, H M, Tong, T Mf, Lo, I Fm

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High rate of detection of subtelomeric aberration by using combined MLPA and subtelomeric FISH approach in patients with moderate to severe mental retardation von Lam, Albert C.F., Lam, Stephen T.S., Lai, Kent K.S., Tong, Tony M.F., Chau, T.C.

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Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T inRMRPgene von 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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Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T in RMRPgene von 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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Profiling of Oncogenic Driver Events in Lung Adenocarcinoma Revealed MET Mutation as Independent Prognostic Factor von Yeung, Sai F., Tong, Joanna H.M., Law, Peggy P.W., Chung, Lau Y., Lung, Raymond W.M., Tong, Carol Y.K., Chow, Chit, Chan, Anthony W.H., Wan, Innes Y.P., Mok, Tony S.K., To, Ka F.

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Detection of ALK Rearrangement by Immunohistochemistry in Lung Adenocarcinoma and the Identification of a Novel EML4-ALK Variant von To, Ka-Fai, Tong, Joanna HM, Yeung, King SF, Lung, Raymond WM, Law, Peggy PY, Chau, Shuk Ling, Kang, Wei, Tong, Carol YK, Chow, Chit, Chan, Anthony WH, Leung, Linda KS, Mok, Tony SK

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