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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)

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