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

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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	2010-07	Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2/q24.3 in a girl with autistic features and developmental delay	陳持平(Chih-Ping Chen)*; (Shuan-Pei Lin); (Schu-Rern Chern); (Yann-Jang Chen); 蔡輔仁(Fuu-Jen Tsai); (Pei-Chen Wu); (Wayseen Wang)
中國醫藥大學	2010-06	Deletion 2q37.3->qter and duplication 15q24.3->qter characterized by array CGH in a girl with epilepsy and dysmorphic features	陳持平(Chih-Ping Chen)*; (Shuan-Pei Lin); (Schu-Rern Chern); 蔡輔仁(Fuu-Jen Tsai); (Pei-Chen Wu); (Chen-Chi Lee); (Li-Feng Chen); (Meng-Shan Lee); (Wayseen Wang)
中國醫藥大學	2010-06	Apert syndrome associated with upper airway obstruction and gastroesophageal reflux presenting polyhydramnios in the third trimester	陳持平(Chih-Ping Chen)*; (Shuan-Pei Lin); (Yi-Ning Su); (Chen-Yu Chen); 蔡輔仁(Fuu-Jen Tsai); (Yu-Peng Liu); (Schu-Rern Chern); (Pei-Chen Wu); (Hsaio-En Cindy Chen); (Wayseen Wang)
中國醫藥大學	2010-03	Ventriculomegaly, intrauterine growth restriction and congenital heart defects as salient prenatal sonographic findings of Miller-Dieker lissencephaly syndrome associated with monosomy 17p (17p13.2->pter) in a fetus	陳持平(Chih-Ping Chen)*; (Yu-Peng Liu); (Shuan-Pei Lin); (Ming Chen); 蔡輔仁(Fuu-Jen Tsai); (Yu-Ting Chen); (Li-Feng Chen); (Jonathan Kwei Hwang); (Wayseen Wang)
中國醫藥大學	2010-02	Prenatal diagnosis of X-linked myotubular myopathy	陳持平(Chih-Ping Chen)*; (Shuan-Pei Lin); (Schu-Rern Chern); 蔡輔仁(Fuu-Jen Tsai); (Tao-Yeuan Wang); (Hung-Hung Lin); (Wayseen Wang)
中國醫藥大學	2008-10	Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review.	陳持平(Chih-Ping Chen)*; (Shuan-Pei Lin); 蔡輔仁(Fuu-Jen Tsai); (Tzu-Hao Wang); (Schu-Rern Chern); (Wayseen Wang)
中國醫藥大學	2008-07	A 5.6 Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay.	陳持平(Chih-Ping Chen)*; (Shuan-Pei Lin); 蔡輔仁(Fuu-Jen Tsai); (Schu-Rern Chern); (Chen-Chi Lee); (Wayseen Wang)
中國醫藥大學	2008-06	Kabuki syndrome in a female with mosaic 45,X/47,XXX and aortic coarctation.	陳持平(Chih-Ping Chen); (Shuan-Pei Lin); 蔡輔仁(Fuu-Jen Tsai); (Schu-Rern Chern); (Wayseen Wang)
中國醫藥大學	2008-06	Transient abnormal myelopoiesis of mosaic trisomy 21 presenting fetoplacental cytogenetic discrepancy, hepatosplenomegaly, oligohydramnios and abnormal hematological findings.	陳持平(Chih-Ping Chen); (Shuan-Pei Lin); 蔡輔仁(Fuu-Jen Tsai); (Hung-Hung Lin); (Schu-Rern Chern); (Chih-Kuang Chuang); (Chen-Chi Lee); (Wayseen Wang)
中國醫藥大學	2008-06	Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation.	陳持平(Chih-Ping Chen); (Shuan-Pei Lin); (Yi-Ning Su); 簡淑錦(Shu-Chin Chien); 蔡輔仁(Fuu-Jen Tsai); (Wayseen Wang)
中國醫藥大學	2007-12	Abnormal prenatal hematological findings in congenital leukemia of Down syndrome with hepatosplenomegaly	陳持平(Chih-Ping Chen); (Shuan-Pei Lin); (Tung-Yao Chang); (Hsin-Tsung Ho)
中國醫藥大學	1998-11	Mutation analysis of Wilson disease in Taiwan and description of six new mutations	蔡長海(Chang-Hai Tsai)*; 蔡輔仁(Fuu-Jen Tsai); 鄔哲源; (Jang-Gowth Chang); 李正淳(Cheng-Chun Lee); (Shuan-Pei Lin); (Chi-Fan Yang); (Yuh-Jyh Jong); (Man-Chi Lo)

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