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机构 日期 题名 作者
中國醫藥大學 2013-06 A boy with cleft palate, hearing impairment, microcephaly, micrognathia and psychomotor retardation and a microdeletion in 6p25.3 involving the DUSP22 gene 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Schu-Rern Chern);(Peih-Shan Wu);(Jun-Wei Su);(Wayseen Wang)
中國醫藥大學 2013-04 Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization 陳持平(Chih-Ping Chen)*;(Chen-Ju Lin);(Tung-Yao Chang);(Schu-Rern Chern);(Peih-Shan Wu);(Yu-Ting Chen);(Jun-Wei Su);(Chen-Chi Lee);(Li-Feng Chen);(Wayseen Wang)
亞洲大學 2013-03 Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21->qter) and partial monosomy 6q (6q27->qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold 陳持平;Chen, Chih-Ping;Yi-Yung Chen;Schu-Rern Chern;Peih-Shan Wu;Jun-Wei Su;Yu-Ting Chen;Li-Feng Chen;Wayseen Wang
亞洲大學 2013-03 Prenatal diagnosis and molecular cytogenetic characterization of a proximal deletion of 22q (22q11.2->q11.21) 陳持平;Chen, Chih-Ping;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 Prenatal diagnosis of partial trisomy 3q (3q27.3->qter) and partial monosomy 14q (14q31.3->qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints 陳持平(Chih-Ping Chen)*;(Yao-Lung Chang);(Schu-Rern Chern);(Peih-Shan Wu);(Jun-Wei Su);(Wen-Lin Chen);(Li-Feng Chen);(Wayseen Wang)
中國醫藥大學 2013-03 Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21->qter) and partial monosomy 6q (6q27->qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold 陳持平(Chih-Ping Chen)*;(Yi-Yung Chen);(Schu-Rern Chern);(Peih-Shan Wu);(Jun-Wei Su);(Yu-Ting Chen);(Li-Feng Chen);(Wayseen Wang)
中國醫藥大學 2013-03 Incidental detection of thoracoomphalopagus at amniocentesis in a twin pregnancy 陳持平(Chih-Ping Chen)*;(Jun-Wei Su);(Chia-Heng Lee);(Wayseen Wang)
中國醫藥大學 2013-03 Mosaic trisomy 12 at amniocentesis: prenatal diagnosis and molecular genetic analysis 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Jun-Wei Su);(Schu-Rern Chern);(Yu-Ting Chen);(Li-Feng Chen);(Wayseen Wang)
中國醫藥大學 2013-03 Placental mesenchymal dysplasia associated with antepartum hemorrhage, subchorionic hematoma and intrauterine growth restriction 陳持平(Chih-Ping Chen)*;(Chin-Yuan Hsu);(Yi-Ning Su);(Tao-Yeuan Wang);(Yi-Yung Chen);(Schu-Rern Chern);(Jun-Wei Su);(Wayseen Wang)
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)
亞洲大學 2013 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;Chen, Chih-Ping;Kwui-Shuai Hwang;Her-Young Su;Shuan-Pei Lin;Yi-Ning Suk, Schu-Rern Chern;Jun-Wei Su;Yu-Ting Chen;Wen-Lin Chen;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 Mosaic isochromosome 20q detected at amniocentesis may be a cell culture artifact 陳持平(Chih-Ping Chen)*;(Shuenn-Dyh Chang);(Yu-Ting Chen);(Jun-Wei Su);(Dai-Dyi Town);(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 Rapid diagnosis of trisomy 21 by array comparative genomic hybridization using uncultured amniocytes in a pregnancy with isolated ventriculomegaly in the fetus 陳持平(Chih-Ping Chen)*;(Schu-Rern Chern);(Peih-Shan Wu);(Jun-Wei Su);(Li-Feng Chen);(Wayseen Wang)
中國醫藥大學 2012-12 Detection of mosaic balanced homologous acrocentric rearrangement rea(21q21q) in a woman with repeated pregnancy losses 陳持平(Chih-Ping Chen)*;(Pei-Chen Wu);蔡輔仁(Fuu-Jen Tsai);(Li-Feng Chen);(Wayseen Wang)
中國醫藥大學 2012-12 De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delay 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yuan-Ling Huang);(Schu-Rern Chern);(Yu-Peng Liu);(Jun-Wei Su);(Chen-Chi Lee);(Wen-Lin Chen);(Wayseen Wang)

显示项目 41-65 / 213 (共9页)
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