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
	機構典藏系統RC7版本已發佈

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	臺大學術典藏NTU Scholars

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Institution	Date	Title	Author
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)
中國醫藥大學	2012-06	Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception	陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Jian-Pei Huang);(Schu-Rern Chern);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學	2012-06	Osteogenesis imperfecta type II: prenatal diagnosis and association with increased nuchal translucency and hypoechogenicity of the cranium	陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Tung-Yao Chang);(Ming-Chao Huang);(Chun-Heng Pan);(Schu-Rern Chern);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學	2012-06	Pure distal 9p deletion in a female infant with cerebral palsy	陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Jun-Wei Su);(Schu-Rern Chern);(Dai-Dyi Town);(Wayseen Wang)
亞洲大學	2012-03	Trisomy 7 mosaicism at amniocentesis: interphase FISH, QF-PCR and aCGH analyses on uncultured amniocytes for rapid distinguishing true mosaicism from pseudomosaicism	Chih-Ping Chen;Hsu-Kuang Huang;Yi-Ning Su;Schu-Rern Chern;Jun-Wei Su;Chen-Chi Lee;Dai-Dyi Town;Wen-Lin Chen;Yu-Ting Chen;Wayseen Wang
中國醫藥大學	2012-03	Trisomy 7 mosaicism at amniocentesis: interphase FISH, QF-PCR and aCGH analyses on uncultured amniocytes for rapid distinguishing true mosaicism from pseudomosaicism	陳持平(Chih-Ping Chen)*;(Hsu-Kuang Huang);(Yi-Ning Su);(Schu-Rern Chern);(Jun-Wei Su);(Chen-Chi Lee);(Dai-Dyi Town);(Wen-Lin Chen);(Yu-Ting Chen);(Wayseen Wang)
中國醫藥大學	2012-03	Prenatal diagnosis of partial trisomy 16p (16p12.2->pter) and partial monosomy 22q (22q13.31->qter) associated with increased nuchal translucency and abnormal maternal serum biochemistry in the first trimester	陳持平(Chih-Ping Chen)*;(Tsang-Ming Ko);(Yi-Ning Su);(Chin-Yuan Hsu);(Yi-Yung Chen);(Jun-Wei Su);(Wen-Lin Chen);(Wayseen Wang)
中國醫藥大學	2012-03	Unexplained shortening of the long bones in the third trimester as the only prenatal feature in a male fetus with 45,X/46,X,r(Y) mosaicism	陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Ming Chen);蔡輔仁(Fuu-Jen Tsai);(Yi-Yung Chen);(Gwo-Chin Ma);(Shun-Ping Chang);(Jun-Wei Su);(Yu-Ting Chen);(Wen-Lin Chen);(Li-Feng Chen);(Wayseen Wang)
中國醫藥大學	2012-03	Prenatal ultrasound demonstration of scoliosis, absence of one rib, a radial club hand, congenital heart defects and absent stomach in a fetus with VACTERL association	陳持平(Chih-Ping Chen)*;(Jin-Chung Shih);(Ming-Chao Huang);(Yu-Peng Liu);(Jun-Wei Su);(Schu-Rern Chern);(Wayseen Wang)
中國醫藥大學	2012-03	Prenatal ultraousnd and magnetic resonance imaging findings of fetal akinesia deformation sequence with multiple pterygium syndrome	陳持平(Chih-Ping Chen)*;(Jin-Chung Shih);(Chen-Yu Chen);(Yu-Peng Liu);(Schu-Rern Chern);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學	2012-03	Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification using uncultured amniocytes in pregnancy with major fetal structural abnormalities	陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Chih-Long Chang);(Yi-Yung Chen);(Jun-Wei Su);(Schu-Rern Chern);(Wayseen Wang)
中國醫藥大學	2011-12	Perinatal magnetic resonance imaging demonstration of duplication of the right renal collecting system with ipsilateral hydronephrosis and hydroureter, and contralateral renal hypoplasia	陳持平(Chih-Ping Chen)*;(Jeng-Daw Tsai);(Chin-Yuan Hsu);(Tung-Yao Chang);(Yu-Peng Liu);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學	2011-09	Prenatal diagnosis of limb-body wall complex with craniofacial defects	陳持平(Chih-Ping Chen)*;(Yi-Yung Chen);(Jun-Wei Su);(Wayseen Wang)

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