| 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
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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 |
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
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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 |
2011-09 |
Self-injurious behavior associated with trisomy 9p (9p13.1->p24.3)
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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
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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
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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 |
Mosaic ring chromosome 4 in a child with mild dysmorphisms, congenital heart defects and developmental delay
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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 |
2011-03 |
Congenital tracheal stenosis in a boy with the 22q13.3 deletion syndrome
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陳持平(Chih-Ping Chen)*; (Shuan-Pei Lin); 蔡輔仁(Fuu-Jen Tsai); (Schu-Rern Chern); (Pei-Chen Wu); (Chen-Chi Lee); (Meng-Shan Lee); (Yu-Ting Chen); (Wayseen Wang) |
| 中國醫藥大學 |
2010-12 |
A 5.3-Mb duplication of 9p12->p13.1 characterized by array CGH in a female infant with developmental delay
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陳持平(Chih-Ping Chen)*; (Shuan-Pei Lin); (Schu-Rern Chern); 蔡輔仁(Fuu-Jen Tsai); (Chen-Chi Lee); (Chen-Wen Pan); (Pei-Chen Wu); (Wayseen Wang) |
| 中國醫藥大學 |
2010-09 |
Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization
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陳持平(Chih-Ping Chen)*; (Yung-Ting Guo); (Shuan-Pei Lin); (Yi-Ning Su); (Yann-Jang Chen); (Rui-Yuan Hseuh); (Yi-Hui Lin); (Pei-Chen Wu); (Chen-Chi Lee); (Yu-Ting Chen); (Wayseen Wang) |
| 中國醫藥大學 |
2010-09 |
Mosaic trisomy 7 at amniocentesis: prenatal diagnosis and molecular genetic analyses
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陳持平(Chih-Ping Chen)*; (Yi-Ning Su); (Schu-Rern Chern); (Yu-Ming Hwu); (Shuan-Pei Lin); (Chyong-Hsin Hsu); 蔡輔仁(Fuu-Jen Tsai); (Tao-Yeuan Wang); (Pei-Chen Wu); (Chen-Chi Lee); (Yu-Ting Chen); (Li-Feng Chen); (Wayseen Wang) |
| 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
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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
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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
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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
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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
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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.
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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.
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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.
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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.
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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.
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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
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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
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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) |
