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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)
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Showing items 11-35 of 97  (4 Page(s) Totally)
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Institution Date Title Author
中國醫藥大學 2013-03 Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome 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 2013-03 Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3->q32.12) associated with abnormal maternal serum biochemistry 陳持平(Chih-Ping Chen)*;(Kwui-Shuai Hwang);(Her-Young Su);(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);(Yu-Ting Chen);(Jun-Wei Su);(Wen-Lin Chen);(Wayseen Wang)
中國醫藥大學 2013-03 Prenatal diagnosis of and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3->q23.3) associated with abnormal maternal serum biochemistry 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Shuan-Pei Lin);(Schu-Rern Chern);(Jun-Wei Su);(Yu-Ting Chen);(Meng-Shan Lee);(Wayseen Wang)
中國醫藥大學 2013-03 Prenatal diagnosis and molecular cytogenetic characterization of a proximal deletion of 22q (22q11.2->q11.21) 陳持平(Chih-Ping Chen)*;(Tsang-Ming Ko);(Yi-Ning Su);(Jun-Wei Su);(Yu-Ting Chen);(Chen-Chi Lee);(Li-Feng Chen);(Wayseen Wang)
中國醫藥大學 2013-03 Discrepancy in the trisomy mosaicism level between cultured amniocytes and uncultured amniocytes in prenatally detected mosaic trisomy 20 陳持平(Chih-Ping Chen)*;(Shuenn-Dyh Chang);(Ho-Yen Chueh);(Yi-Ning Su);(Schu-Rern Chern);(Jun-Wei Su);(Yu-Ting Chen);(Li-Feng Chen);(Meng-Shan Lee);(Wayseen Wang)
中國醫藥大學 2013-03 Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism 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 2013-01 Array comparative genomic hybridization characterization of prenatally detected de novo apparently balanced reciprocal translocations with or without genomic imbalance in other chromosome 陳持平(Chih-Ping Chen)*;(Ming Chen);(Gwo-Chin Ma);(Yi-Ning Su);(Tsang-Ming Ko);(Yi-Hui Lin);(Wayseen Wang)
中國醫藥大學 2012-12 Partial trisomy 1q (1q42.13->qter) and partial monosomy 6q (6q27->qter) in a girl with single median maxillary central incisor, dysgenesis of corpus callosum and developmental delay 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);(Jun-Wei Su);(Chen-Chi Lee);(Wayseen Wang)
中國醫藥大學 2012-12 Mosaic trisomy 2 at amniocentesis: prenatal diagnosis and molecular genetic analysis 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Schu-Rern Chern);(Yu-Ting Chen);(Peih-Shan Wu);(Jun-Wei Su);(Chen-Wen Pan);(Wayseen Wang)
中國醫藥大學 2012-12 Prenatal diagnosis of trisomy 8 mosaicism 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Schu-Rern Chern);(Yu-Ting Chen);(Jun-Wei Su);(Chen-Wen Pan);(Wayseen Wang)
中國醫藥大學 2012-12 Prenatal diagnosis of an interstitial deletion of 10q (10q11.21->q21.1): array comparative genomic hybridization characterization and literature review 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Schu-Rern Chern);(Peih-Shan Wu);(Jun-Wei Su);(Dai-Dyi Town);(Wayseen Wang)
中國醫藥大學 2012-12 Prenatal diagnosis of mosaic tetrasomy 18p 陳持平(Chih-Ping Chen)*;(Tsang-Ming Ko);(Yi-Ning Su);(Schu-Rern Chern);(Jun-Wei Su);(Yu-Ting Chen);(Dai-Dyi Town);(Wayseen Wang)
亞洲大學 2012-09 Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo X;Y translocation 陳持平;Chen, Chih-Ping;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 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 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 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 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)
亞洲大學 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;Chen,Chih-Ping;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 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 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)

Showing items 11-35 of 97  (4 Page(s) Totally)
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