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显示项目 51-75 / 97 (共4页)
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机构 日期 题名 作者
中國醫藥大學 2011-12 A 20.5-Mb germline deletion of 13q13.1->q14.3 and somatic mutations of the RB1 gene in an 8-year-old girl with unilateral retinoblastoma, developmental delay and mental retardation 陳持平(Chih-Ping Chen)*;(Ling-Yuh Kao);(Yi-Ning Su);(Ming Chen);(Shueen-Dyh Chang);(Wayseen Wang)
中國醫藥大學 2011-10 IKZF1 deletions predict a poor prognosis in children with B-cell progenitor acute lymphoblastic leukemia: A multicenter analysis in Taiwan (Yung-Lin Yang);(Chia-Cheng Hung)*;(Jiann-Shiuh Chen);(Kai-Hsun Lin);(Shiann-Tarng Jou);(Chih-Cheng Hsiao);(Jiunn-Ming Sheen);(Chao-Neng Chen);巫康熙(Kang-Hsi Wu);(Shu-Rung Lin);(Sung-Liang Yu);(Hsuan-Yu Chen);(Meng-Yao Lu);(Shih-Cheng Wang);(Hsiu-Hao Chang);(Shu-Wha Lin);(Yi-Ning Su);(Dong-Tsamn Lin)*
中國醫藥大學 2011-09 Self-injurious behavior associated with trisomy 9p (9p13.1->p24.3) 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Wen-Lin Chen);(Wayseen Wang)
中國醫藥大學 2011-09 Mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy, facial asymmetry, psychomotor retardation, kyphoscoliosis, dermatofibrosarcoma and multiple exostoses 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Ming Chen);(Yi-Ning Su);(Schu-Rern Chern);(Tao-Yeuan Wang);(Yu-Peng Liu);蔡輔仁(Fuu-Jen Tsai);(Chen-Chi Lee);(Yen-Jiun Chen);(Wayseen Wang)
中國醫藥大學 2011-09 A 24.2-Mb deletion of 4q12->q21.21 characterized by array CGH in a 13?-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Li-Feng Chen);(Wayseen Wang)
中國醫藥大學 2011-09 Prenatal diagnosis of mosaic trisomy 8: clinical report and literature review 陳持平(Chih-Ping Chen)*;(Ming Chen);(Yi-Ju Pan);(Yi-Ning Su);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Yu-Ting Chen);(Wayseen Wang)
中國醫藥大學 2011-09 De novo duplication Xq22.1->q24 with a disruption of the NXF geen cluster in a mentally retarded woman with short stature and premature ovarian failure 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Hung-Hung Lin);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Chen-Chi Lee);(Yu-Ting Chen);(Wayseen Wang)
中國醫藥大學 2011-09 Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Yi-Yung Chen);(Schu-Rern Chern);(Yu-Peng Liu);(Pei-Chen Wu);(Chen-Chi Lee);(Yu-Ting Chen);(Wayseen Wang)
中國醫藥大學 2011-09 Prenatal diagnosis and molecular cytogenetic characterization of a mosaic derivative Y chromosome derived from a de novo unbalanced reciprocal Yq;13q translocation 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Ming Chen);(Jain-Pei Huang);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Wen-Lin Chen);(Wayseen Wang)
中國醫藥大學 2011-09 Prenatal diagnosis of directly transmitted benign 4q12-q13.1 quadruplication associated with tandem segmental amplifications of the LPHN3 gene 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Yu-Ting Chen);(Wen-Lin Chen);(Lee James Hsu);(Wayseen Wang)
中國醫藥大學 2011-09 Prenatal diagnosis of mosaic trisomy 2: discrepancy between molecular cytogenetic analyses of uncultured amniocytes and karyotyping of cultured amniocytes in a pregnancy with severe fetal intrauterine growth restriction 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Shin-Yu Lin);(Schu-Rern Chern);(Yu-Ting Chen);(Meng-Shan Lee);(Wayseen Wang)
中國醫藥大學 2011-09 Mosaic ring chromosome 4 in a child with mild dysmorphisms, congenital heart defects and developmental delay 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Chen-Chi Lee);(Wayseen Wang)
中國醫藥大學 2011-09 Prenatal diagnosis of microvillus inclusion disease 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Schu-Rern Chern);(Pei-Chen Wu);(Wayseen Wang)
亞洲大學 2011-06 Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo interstitial deletion of chromosome 20p 陳持平;Chen, Chih-Ping;Yi-Ning Su;Schu-Rern Chern;Fuu-Jen Tsai;Pei-Chen Wu;Chen-Chi Lee;Wayseen Wang
中國醫藥大學 2011-06 Rapid aneuploidy diagnosis by array comparative genomic hybridization using uncultured amniocytes in a pregnancy with fetal nuchal edema and mild ascites 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Pei-Chen Wu);(Chen-Chi Lee);(Chen-Wen Pan);(Wayseen Wang)
中國醫藥大學 2011-06 Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic isochromosome 20q detected at amniocentesis 陳持平(Chih-Ping Chen)*;(Jui-Der Liou);(Chi-Hsin Chiang);(Yi-Ning Su);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Yu-Ting Chen);(Chen-Chi Lee);(Wen-Lin Chen);(Wayseen Wang)
中國醫藥大學 2011-06 Prenatal diagnosis of cerebral tubers by magnetic resonance imaging following detection of cardiac rhabdomyomas by prenatal ultrasound in a fetus with a nonsense mutation in the TSC2 gene 陳持平(Chih-Ping Chen)*;(Yi-Ning Su);(Chin-Yuan Hsu);(Ming-Ren Chen);(Yu-Peng Liu);(Pei-Chen Wu);(Wayseen Wang)
中國醫藥大學 2011-03 Inv dup del(9p): prenatal diagnosis and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization 陳持平(Chih-Ping Chen)*; (Yi-Ning Su); (Schu-Rern Chern); (Chin-Yuan Hsu); 蔡輔仁(Fuu-Jen Tsai); (Pei-Chen Wu); (Chen-Chi Lee); (Yu-Ting Chen); (Meng-Shan Lee); (Wayseen Wang)
中國醫藥大學 2011-03 Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations 陳持平(Chih-Ping Chen)*; (Yi-Ning Su); (Shin-Yu Lin); (Chih-Long Chang); (Yeou-Lih Wang); (Jiau-Pei Huang); (Chen-Yu Chen); (Fang-Yu Hung); (Yi-Yung Chen); (Pei-Chen Wu); (Wayseen Wang)
中國醫藥大學 2011 Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia. (Kai-Chi Chang); 林柏翰(Po-Han Lin); (Yi-Ning Su); (Steven Shinn-Forng Peng); (Ni-Chung Lee); (Hung-Chieh Chou); (Chien-Yi Chen); (Wu-Shiun Hsieh); (Po-Nien Tsao)*
亞洲大學 2010-12 Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling Chih-Ping Chen; Yi-Ning Su;Chin-Yuan Hsu;Schu-Rern Chern;Fuu-Jen Tsai;Pei-Chen Wu;Po-Tsang Chen;Wayseen Wang
中國醫藥大學 2010-12 Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings 陳持平(Chih-Ping Chen)*; (Ming Chen); (Yi-Ning Su); (Chin-Yuan Hsu); 蔡輔仁(Fuu-Jen Tsai); (Schu-Rern Chern); (Pei-Chen Wu); (Chen-Chi Lee); (Wayseen Wang)
中國醫藥大學 2010-12 Balanced reciprocal translocations at amniocentesis 陳持平(Chih-Ping Chen)*; (Pei-Chen Wu); (Yi-Ning Su); (Schu-Rern Chern); 蔡輔仁(Fuu-Jen Tsai); (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 2010-12 Partial trisomy 16p (16p12.2->pter) and partial monosomy 22q (22q13.31->qter) presenting with fetal ascites and ventriculomegaly: prenatal diagnosis and array comparative genomic hybridization characterization 陳持平(Chih-Ping Chen)*; (Yi-Ning Su); (Richard Shih-Hung Young); 蔡輔仁(Fuu-Jen Tsai); (Pei-Chen Wu); (Schu-Rern Chern); (Dai-Dyi Town); (Chen-Wen Pan); (Wayseen Wang)
中國醫藥大學 2010-12 Partial trisomy 10q (10q25.1->qter) and partial monosomy 13q (13q34->qter) presenting with fetal pyelectasis: prenatal diagnosis and array comparative genomic hybridization characterization 陳持平(Chih-Ping Chen)*; (Yi-Ning Su); 蔡輔仁(Fuu-Jen Tsai); (Chin-Yuan Hsu); (Schu-Rern Chern); (Pei-Chen Wu); (Chen-Chi Lee); (Wen-Lin Chen); (Wayseen Wang)

显示项目 51-75 / 97 (共4页)
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