臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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	造访人次 : 51996047 在线人数 : 1025 教育部委托研究计画计画执行:国立台湾大学图书馆

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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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机构	日期	题名	作者
中國醫藥大學	2014-03	A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation	陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Schu-Rern Chern);(Peih-Shan Wu);蘇俊維(Jun-Wei Su);(Chen-Chi Lee);(Wayseen Wang)
中國醫藥大學	2014-03	Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid diagnosis of true mosaicism in a case of level II mosaicism involving trisomy 21 in a single colony from an in situ culture of amniocytes	陳持平(Chih-Ping Chen)*;(Pu-Tsui Wang);(Shuan-Pei Lin);(Schu-Rern Chern);(Yu-Ting Chen);(Peih-Shan Wu);(Yu-Ling Kuo);(Wen-Lin Chen);(Wayseen Wang)
中國醫藥大學	2013-07	6p21.2-p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia, psychomotor developmental delay and poor wound healing	陳持平(Chih-Ping Chen)*;(Shuan-Pei Lin);(Yu-Peng Liu);(Schu-Rern Chern);(Peih-Shan Wu);(Yu-Ting Chen);(Jun-Wei Su);(Chen-Chi Lee);(Wayseen Wang)
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	2013-06	Effects of Enzyme Replacement Therapy for Cardiac type Fabry Patients with a Chinese Hotspot Late-onset Fabry Mutation (IVS4+919G>A)	(Hsiang-Yu Lin);(Hao-Chuan Liu);(Yu-Hsiu Huang);(Hsuan-Chieh Liao);(Ting-Rong Hsu);(Chia-I Shen);(Shao-Tzu Li);(Cheng-Fang Li);(Li-Hong Lee);(Pi-Chang Lee);(Chun-Kai Huang);(Chuan-Chi Chiang);林清淵(Ching-Yuang Lin);(Shuan-Pei Lin);(Dau-Ming Niu)*
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 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)
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

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