Publication
(All)



Results 1-4 of 4 (Search time: 0.032 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 1210
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 89
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
42016Urorectal 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