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"陳持平 chih ping chen"的相關文件

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機構	日期	題名	作者
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)
中國醫藥大學	2012-09	Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo X;Y translocation	陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Schu-Rern Chern);(Jun-Wei Su);(Yu-Ting Chen);(Chen-Chi Lee);(Wayseen Wang)
中國醫藥大學	2012-09	A de novo 4.4-Mb microdeletion in 2p24.3->p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome	陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Schu-Rern Chern);(Peih-Shan Wu);(Shuenn-Dyh Chang);(Shu-Hang Ng);(Yu-Peng Liu);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學	2012-09	Placenta proteome analysis from Down syndrome pregnancies for biomarker discovery	陳持平(Chih-Ping Chen);(You-Hsuan Chen);(Schu-Rern Chern);(Shing-Jyh Chang);(Te-Lung Tsai);(Sheng-Hsiang Li);(Hsiu-Chuan Chou);(Yi-Wen Lo);(Ping-Chiang Lyu);(Hong-Lin Chan)*
中國醫藥大學	2012-09	Pure partial monosomy 3p (3p25.3->pter): prenatal diagnosis and array comparative genomic hybridization characterization	陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Chen-Yu Chen);(Jun-Wei Su);(Schu-Rern Chern);(Dai-Dyi Town);(Wayseen Wang)
中國醫藥大學	2012-09	Rapid positive confirmation of trisomy 21 mosaicism at amniocentesis by interphase FISH, QF-PCR and aCGH on uncultured amniocytes	陳持平(Chih-Ping Chen)*;(Shuenn-Dyh Chang);(Ho-Yen Chueh);(Yi-Ning Su);(Jun-Wei Su);(Schu-Rern Chern);(Yu-Ting Chen);(Chen-Chi Lee);(Dai-Dyi Town);(Wen-Lin Chen);(Li-Feng Chen);(Meng-Shan Lee);(Chen-Wen Pan);(Wayseen Wang)
中國醫藥大學	2012-06	Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly	陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Ming-Ren Chen);(Jun-Wei Su);(Schu-Rern Chern);(Yen-Jiun Chen);(Meng-Shan Lee);(Wayseen Wang)
中國醫藥大學	2012-06	Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation	陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Chyong-Hsin Hsu);(Schu-Rern Chern);(Jun-Wei Su);(Yen-Jiun Chen);(Chen-Wen Pan);(Wayseen Wang)
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	Prenatal findings and the genetic diagnosis of fetal overgrowth disorders:Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome	陳持平(Chih-Ping Chen)*
中國醫藥大學	2012-06	OTX2 mutations contribute to the otocephaly-dysgnathia complex	(Chassaing N)*;(Sorrentino S);(Davis EE);(Martin-Coignard D);(Iacovelli A);(Paznekas W);(Webb BD);(Faye-Petersen O);(Encha-Razavi F);(Lequeux L);(Vigouroux A);(Yesilyurt A);(Boyadjiev SA);(Kayserili H);(Loget P);(Carles D);(Sergi C);(Puvabanditsin S);陳持平(Chih-Ping Chen);(Etchevers HC);(Katsanis N);(Mercer CL);(Calvas P);(Jabs EW)
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)

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