臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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	2019臺灣學術機構典藏研討會
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機構	日期	題名	作者
中國醫藥大學	2012-06	A de novo supernumerary marker chromosome derived from chromosome 9p (9p13.1->p23) associated with attention deficit and hyperactivity disorder	陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Jun-Wei Su);(Dai-Dyi Town);(Wayseen Wang)
中國醫藥大學	2012-06	Phenotypic features associated with mosaic tetrasomy 9p in a 20-year-old female patient include autism spectrum disorder	陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Jun-Wei Su);(Meng-Shan Lee);(Wayseen Wang)
中國醫藥大學	2012-06	Inv dup del(10q): Identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements	陳持平(Chih-Ping Chen)*;(Ming Chen);(Yi-Ning Su);(Jian-Pei Huang);(Gwo-Chin Ma);(Shun-Ping Chang);(Schu-Rern Chern);(Yu-Ting Chen);(Jun-Wei Su);(Chen-Chi Lee);(Dai-Dyi Town);(Wayseen Wang)
中國醫藥大學	2012-06	Rapid diagnosis of monosomy X using uncultured amniocytes in amniotic fluid and cultured lymphocytes in cystic fluid in a pregnancy with fetal cystic hygroma and hydrops	陳持平(Chih-Ping Chen)*;(Chin-Yuan Hsu);(Schu-Rern Chern);(Peih-Shan Wu);(Jun-Wei Su);(Chen-Chi Lee);(Wayseen Wang)
中國醫藥大學	2012-06	Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene	陳持平(Chih-Ping Chen)*;(Schu-Rern Chern);(Tung-Yao Chang);(Yi-Ning Su);(Yi-Yung Chen);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學	2012-06	Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the asymptomatic father	陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Tung-Yao Chang);(Schu-Rern Chern);(Chen-Yu Chen);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學	2012-06	Identification of a deletion mutation in the short flanking repeat region of exon 44 of COL1A1 gene in a fetus with osteogenesis imperfecta type II	陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Tung-Yao Chang);(Schu-Rern Chern);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學	2012-06	Identification of a COL1A2 mutation with a deletion spanning coding and intronic sequence in exon 19 and intron 19 in a fetus with osteogenesis imperfecta type II	陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Fang-Yu Hung);(Schu-Rern Chern);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學	2012-06	Partial monosomy 9p (9p22.2->pter) and partial trisomy 18q (18q21.32->qter) in a female infant with anorectal malformations	陳持平(Chih-Ping Chen)*;(Hsien-Ming Lin);(Cheung Leung);(Shuan-Pei Lin);(Yi-Ning Su);(Jun-Wei Su);(Yu-Ting Chen);(Wayseen Wang)
中國醫藥大學	2012-06	Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome	陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);(Ming-Huei Lin);(Jun-Wei Su);(Wayseen Wang)

顯示項目 86-95 / 213 (共22頁)
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