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Results 1-6 of 6 (Search time: 0.045 seconds).

Issue DateTitleAuthor(s)SourcescopusWOSFulltext/Archive link
12009A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPST E24 geneMING CHEN American Journal of Medical Genetics, Part A 1110
22011A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese babyMING CHEN American Journal of Medical Genetics, Part A 67
32010De novo triple segmental aneuploid of 1p, 1q, and 4q in a girl with hypertrophic cardiomyopathy, muscle hypotonia, and multiple congenital anomaliesMING CHEN American Journal of Medical Genetics, Part A 22
42008Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein functionFUNG-RONG HU ; Weiss, JS; Kruth, HS; Weiss, Jayne S.; Kuivaniemi, H; Tromp, G; Kruth, Howard S.; Karkera, J; Kuivaniemi, Helena; Mahurkar, S; Tromp, Gerard; Karkera, Jayaprakash; Lisch, W; Mahurkar, Sunil; Dupps WJ, Jr; Lisch, Walter; White, PS; Dupps, William J; Winters, RS; Kim, C; White, Peter S.; Winters, R. Scott; Rapuano, CJ; Sutphin, J; Kim, Chaesik; Rapuano, Christopher J.; Reidy, J; Hu, FR; Sutphin, John; Reidy, Jim; Lu da, W; Hu, Fung-Rong ; Ebenezer, N; Nickerson, ML.American Journal of Medical Genetics, Part A 3737
52008Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function (American Journal of Medical Genetics Part A 146A, (271-283))FUNG-RONG HU American Journal of Medical Genetics, Part A 33
62016Urorectal septum malformation sequence—Fetal series with the description of a new “intermediate” variant. Time to refine the terminology?Huang, Kuan-Ying; MING CHEN ; JIN-CHUNG SHIH; Kuo, Kuan-Ting; Li, Yi-Ping; KUAN-TING KUO; Chen, Ming; Yu, Ching-Uen; Shih, Jin-ChungAmerican Journal of Medical Genetics, Part A 00