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機構 日期 題名 作者
中國醫藥大學 2012-12 First-trimester prenatal diagnosis of Ellis-van Creveld syndrome 陳持平(Chih-Ping Chen)*;(Chen-Yu Chen);(Schu-Rern Chern);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學 2012-12 Alobar holoprosencephaly, cebocephaly and micropenis in a Klinefelter fetus of a diabetic mother 陳持平(Chih-Ping Chen)*;(Tsung-Hsien Su);(Schu-Rern Chern);(Jun-Wei Su);(Chen-Chi Lee);(Wayseen Wang)
中國醫藥大學 2012-09 Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學 2012-09 Partial monosomy 3p (3p26.2->pter) and partial trisomy 5q (5q34->qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Ming-Ren Chen);(Yi-Ning Su);(Schu-Rern Chern);(Yu-Peng Liu);(Jun-Wei Su);(Meng-Shan Lee);(Wayseen Wang)
中國醫藥大學 2012-09 Rapid diagnosis of trisomy 18 using uncultured amniocytes in late second trimester in a pregnancy with fetal congenital heart defects, arthrogryposis, omphalocele and mega cisterna magna 陳持平(Chih-Ping Chen)*;Yi-Yung Chen;(Jui-Der Liou);(Schu-Rern Chern);(Peih-Shan Wu);(Jun-Wei Su);(Meng-Shan Lee);(Wayseen Wang)
中國醫藥大學 2012-09 Rapid positive confirmation of mosaicism for a small supernumerary marker chromosome as r(8) by interphase FISH, QF-PCR and aCGH on uncultured amniocytes in a pregnancy with fetal pyelectasis 陳持平(Chih-Ping Chen)*;(Shuenn-Dyh Chang);(Yi-Ning Su);(Ming Chen);(Schu-Rern Chern);(Jun-Wei Su);(Yu-Ting Chen);(Wen-Lin Chen,);(Chen-Wen Pan);(Meng-Shan Lee);(Wayseen Wang)
中國醫藥大學 2012-09 Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 2 陳持平(Chih-Ping Chen)*;(Ming Chen);(Schu-Rern Chern);(Peih-Shan Wu);(Shun-Ping Chang);(Dong-Jay Lee);(Yu-Ting Chen);(Li-Feng Chen);(Jun-Wei Su,);(Alan Hwa-Ruey Hsieh);(Alex Hwa-Jiun Hsieh);(Wayseen Wang)
中國醫藥大學 2012-09 Monozygotic twins with trisomy 18 of paternal origin: prenatal diagnosis and molecular cytogenetic characterization in a pregnancy with one structurally abnormal living fetus and one intrauterine fetal demise 陳持平(Chih-Ping Chen)*;(Schu-Rern Chern);(Yi-Yung Chen);(Pei-Chen Wu);(Dai-Dyi Town);(Wen-Lin Chen);(Wayseen Wang)
中國醫藥大學 2012-09 Usefulness of interphase FISH on uncultured amniocytes for rapid confirmation of low-level trisomy 7 mosaicism in a pregnancy with fetal intrauterine growth restriction and microcephaly 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Yi-Yung Chen);(Schu-Rern Chern);(Jun-Wei Su);(Yu-Ting Chen);(Dai-Dyi Town);(Wayseen Wang)
中國醫藥大學 2012-09 Rapid aneuploidy diagnosis of trisomy 18 by array comparative genomic hybridization using uncultured amniocytes in a pregnancy with fetal arachnoid cyst detected in late second trimester 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Shun-Long Weng);(Fuu-Jen Tsai);(Chen-Yu Chen);(Yu-Peng Liu);(Schu-Rern Chern);(Wen-Lin Chen);(Pei-Chen Wu);(Wayseen Wang)

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