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機構 日期 題名 作者
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)
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)
中國醫藥大學 2012-04 Persistent cloaca presenting with a perineal cyst: prenatal ultrasound and magnetic resonance imaging findings 陳持平(Chih-Ping Chen)*;(Tung-Yao Chang);(Chin-Yuan Hsu);(Yu-Peng Liu);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Wayseen Wang)
中國醫藥大學 2012-03 Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Dar-Shong Lin);(Yu-Peng Liu);(Lee James Hsu);(Wayseen Wang)
中國醫藥大學 2012-03 Mosaic ring chromosome 21, monosomy 21 and isodicentric ring chromosome 21: prenatal diagnosis, molecular cytogenetic characterization and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of 21q22.3 陳持平(Chih-Ping Chen)*;(Yi-Hui Lin);(Szu-Yuan Chou);(Yi-Ning Su);(Schu-Rern Chern);(Yu-Ting Chen);(Dai-Dyi Town);(Wen-Lin Chen);(Chen-Wen Pan);(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 Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular genetic analysis 陳持平(Chih-Ping Chen)*;(Tung-Yao Chang);(Tao-Yeuan Wang);(Chen-Yu Chen);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Schu-Rern Chern);(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 MUC2 polymorphisms are associated with endometriosis development and infertility: a case-control study 張穎宜(Yin-Yi Chang);(Yi Chen);林武周(Wu-Chou Lin);陳志玫(Chih-Mei Chen);陳持平(Chih-Ping Chen);李尚熾(Shan Chih Lee);許晉銓(Jinn-Chyuan Sheu)*;蔡輔仁(Fuu-Jen Tsai)*
中國醫藥大學 2012-03 MUC2 polymorphisms are associated with endometriosis development and infertility: a case-control study 張穎宜(Yin-Yi Chang);(Yi Chen);林武周(Wu-Chou Lin);陳志玫(Chih-Mei Chen);陳持平(Chih-Ping Chen);李尚熾(Shan Chih Lee);許晉銓(Jinn-Chyuan Sheu)*;蔡輔仁(Fuu-Jen Tsai)*
中國醫藥大學 2012-03 Rapid aneuploidy diagnosis of partial trisomy 7q (7q34->qter) and partial monosomy 10q (10q26.12->qter) by array comparative genomic hybridization using uncultured amniocytes 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yi-Ning Su);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Dai-Dyi Town);(Li-Feng Chen);(Meng-Shan Lee);(Wayseen Wang)
中國醫藥大學 2012-03 Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review 陳持平(Chih-Ping Chen)*
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 Pure interstitial duplication of chromosome 7q (7q31.2->q33) in a 4-year-old girl with growth restriction, short stature, speech delay and mental retardation 陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Schu-Rern Chern);蔡輔仁(Fuu-Jen Tsai);(Meng-Shan Lee);(Yen-Jiun Chen);(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 2011-12 A de novo duplication of chromosome 21q22.11->qter associated with Down syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings 陳持平(Chih-Ping Chen)*;(Hsu-Kuaing Huang);(Pei-Ying Lin);(Yi-Ning Su);(Ming Chen);蔡輔仁(Fuu-Jen Tsai);(Pei-Chen Wu);(Schu-Rern Chern);(Yu-Ting Chen);(Chen-Chi Lee);(Wayseen Wang)
中國醫藥大學 2011-12 Prenatal diagnosis of a de novo interstitial deletion of chromosome 20q12 in a fetus with complex congenital heart defects, corpus callosum agenesis and intrauterine growth restriction (Yi-Hui Lin);陳持平(Chih-Ping Chen)*;(Tze-Chien Chen);(Chun-Sen Hsu);(Szu-Yuan Chou);簡淑錦(Shu-Chin Chien)

顯示項目 86-110 / 255 (共11頁)
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