中國醫藥大學機構典藏 China Medical University Repository, Taiwan:作者相关文件

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"(Shuan-Pei Lin)"的相关文件

类别	日期	题名	作者
[醫學系] 期刊論文	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)*
[台中附設醫院] 期刊論文	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)*
[中醫學系暨碩博班] 會議論文	2015-05-17	Molecular Aspects of Mucopolysaccharidosis IVA in Taiwan	林瑋德(Wei-De Lin); 周宜卿(I-Ching Chou); (Shuan-Pei Lin); (Pao-Chin Chiu); (Wuh-Liang Hwu); 王仲興(Chung-Hsing Wang); 蔡輔仁(Fuu-Jen Tsai)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	2012-12	Partial trisomy 1q (1q42.13->qter) and partial monosomy 6q (6q27->qter) in a girl with single median maxillary central incisor, dysgenesis of corpus callosum and developmental delay	陳持平(Chih-Ping Chen); (Shuan-Pei Lin); (Yi-Ning Su); (Schu-Rern Chern); (Jun-Wei Su); (Chen-Chi Lee); (Wayseen Wang)*
[中醫學系暨碩博班] 期刊論文	2012-12	De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delay	陳持平(Chih-Ping Chen); (Shuan-Pei Lin); (Yuan-Ling Huang); (Schu-Rern Chern); (Yu-Peng Liu); (Jun-Wei Su); (Chen-Chi Lee); (Wen-Lin Chen); (Wayseen Wang)*
[中醫學系暨碩博班] 期刊論文	2012-09	Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III	陳持平(Chih-Ping Chen); (Shuan-Pei Lin); (Yi-Ning Su); (Schu-Rern Chern); (Jun-Wei Su); (Wayseen Wang)*
[中醫學系暨碩博班] 期刊論文	2012-09	Partial monosomy 3p (3p26.2->pter) and partial trisomy 5q (5q34->qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay	陳持平(Chih-Ping Chen); (Shuan-Pei Lin); (Ming-Ren Chen); (Yi-Ning Su); (Schu-Rern Chern); (Yu-Peng Liu); (Jun-Wei Su); (Meng-Shan Lee); (Wayseen Wang)*
[中醫學系暨碩博班] 期刊論文	2012-09	A de novo 4.4-Mb microdeletion in 2p24.3->p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome	陳持平(Chih-Ping Chen); (Shuan-Pei Lin); (Schu-Rern Chern); (Peih-Shan Wu); (Shuenn-Dyh Chang); (Shu-Hang Ng); (Yu-Peng Liu); (Jun-Wei Su); (Wayseen Wang)*
[中醫學系暨碩博班] 期刊論文	2012-06	Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly	陳持平(Chih-Ping Chen); (Shuan-Pei Lin); (Ming-Ren Chen); (Jun-Wei Su); (Schu-Rern Chern); (Yen-Jiun Chen); (Meng-Shan Lee); (Wayseen Wang)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	2012-06	Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation	陳持平(Chih-Ping Chen); (Shuan-Pei Lin); (Chyong-Hsin Hsu); (Schu-Rern Chern); (Jun-Wei Su); (Yen-Jiun Chen); (Chen-Wen Pan); (Wayseen Wang)*
[中醫學系暨碩博班] 期刊論文	2012-06	A de novo supernumerary marker chromosome derived from chromosome 9p (9p13.1->p23) associated with attention deficit and hyperactivity disorder	陳持平(Chih-Ping Chen); (Shuan-Pei Lin); (Jun-Wei Su); (Dai-Dyi Town); (Wayseen Wang)*
[中醫學系暨碩博班] 期刊論文	2012-06	Phenotypic features associated with mosaic tetrasomy 9p in a 20-year-old female patient include autism spectrum disorder	陳持平(Chih-Ping Chen); (Shuan-Pei Lin); (Jun-Wei Su); (Meng-Shan Lee); (Wayseen Wang)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	2011-09	Mosaic ring chromosome 4 in a child with mild dysmorphisms, congenital heart defects and developmental delay	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)*
[中醫學系暨碩博班] 期刊論文	2011-09	Self-injurious behavior associated with trisomy 9p (9p13.1->p24.3)	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)*
[中醫學系暨碩博班] 期刊論文	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	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)*
[中醫學系暨碩博班] 期刊論文	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	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)*
[中醫學系暨碩博班] 期刊論文	2011-03	Congenital tracheal stenosis in a boy with the 22q13.3 deletion syndrome	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)*
[中醫學系暨碩博班] 期刊論文	2010-12	A 5.3-Mb duplication of 9p12->p13.1 characterized by array CGH in a female infant with developmental delay	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)*
[中醫學系暨碩博班] 期刊論文	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	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)*
[中醫學系暨碩博班] 期刊論文	2010-09	Mosaic trisomy 7 at amniocentesis: prenatal diagnosis and molecular genetic analyses	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)
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	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)*
[中醫學系暨碩博班] 期刊論文	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)
[中醫學系暨碩博班] 期刊論文	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)
[中醫學系暨碩博班] 期刊論文	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)
[中醫學系暨碩博班] 期刊論文	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)

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