Items for Author "Shuan-Pei Lin" 

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Showing 56 items.

Collection	Date	Title	Authors	Bitstream
[生物醫學研究所] 期刊論文	2012-12-01	De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delay	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
[生物醫學研究所] 期刊論文	2012-12-01	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	Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Jun-Wei Su; Chen-Chi Lee; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-11-01	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	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
[生物醫學研究所] 期刊論文	2012-09-01	Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III	Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Jun-Wei Su; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-09-01	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	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
[生物醫學研究所] 期刊論文	2012-06-01	A de novo supernumerary marker chromosome derived from chromosome 9p (9p13.1->p23) associated with attention deficit and hyperactivity disorder	Chih-Ping Chen; Shuan-Pei Lin; Jun-Wei Su; Dai-Dyi Town; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-06-01	Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome	Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Ming-Huei Lin; Jun-Wei Su; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-06-01	Partial monosomy 9p (9p22.2->pter) and partial trisomy 18q (18q21.32->qter) in a female infant with anorectal malformations	Chih-Ping Chen; Hsien-Ming Lin; Cheung Leung; Shuan-Pei Lin; Yi-Ning Su; Jun-Wei Su; Yu-Ting Chen; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-06-01	Phenotypic features associated with mosaic tetrasomy 9p in a 20-year-old female patient include autism spectrum disorder	Chih-Ping Chen; Shuan-Pei Lin; Jun-Wei Su; Meng-Shan Lee; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-06-01	Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly	Chih-Ping Chen; Shuan-Pei Lin; Ming-Ren Chen; Jun-Wei Su; Schu-Rern Chern; Yen-Jiun Chen; Meng-Shan Lee; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-06-01	Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation	Chih-Ping Chen; Shuan-Pei Lin; Chyong-Hsin Hsu; Schu-Rern Chern; Jun-Wei Su; Yen-Jiun Chen; Chen-Wen Pan; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-06-01	Pure distal 9p deletion in a female infant with cerebral palsy	Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Jun-Wei Su; Schu-Rern Chern; Dai-Dyi Town; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-06-01	Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception	Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Jian-Pei Huang; Schu-Rern Chern; Jun-Wei Su; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-03-01	Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome	Chih-Ping Chen; Shuan-Pei Lin; Dar-Shong Lin; Yu-Peng Liu; Lee James Hsu; Wayseen Wang
[生物醫學研究所] 期刊論文	2012-03-01	Rapid aneuploidy diagnosis of partial trisomy 7q (7q34->qter) and partial monosomy 10q (10q26.12->qter) by array comparative genomic hybridization using uncultured amniocytes	Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Fuu-Jen Tsai; Pei-Chen Wu; Dai-Dyi Town; Li-Feng Chen; Meng-Shan Lee; Wayseen Wang
[生物醫學研究所] 期刊論文	2011-12-01	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	Chih-Ping Chen; Shuan-Pei Lin; Schu-Rern Chern; Fuu-Jen Tsai; Meng-Shan Lee; Yen-Jiun Chen; Wayseen Wang
[生物醫學研究所] 期刊論文	2011-11-01	Quantitative and qualitative analyses of the SNRPN gene using real-time PCR with melting curve analysis	Chia-Cheng Hung; Shin-Yu Lin; Shuan-Pei Lin; Chih-Ping Chen; Lang-Yao Chen; Chien-Nan Lee; Yi-Ning Su
[生物醫學研究所] 期刊論文	2011-09-01	A 24.2-Mb deletion of 4q12→q21.21 characterized by array CGH in a 13½-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty	Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Fuu-Jen Tsai; Pei-Chen Wu; Li-Feng Chen; Wayseen Wang
[生物醫學研究所] 期刊論文	2011-09-01	Mosaic ring chromosome 4 in a child with mild dysmorphisms, congenital heart defects and developmental delay	Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Yi-Ning Su; Fuu-Jen Tsai; Pei-Chen Wu; Chen-Chi Lee; Wayseen Wang
[生物醫學研究所] 期刊論文	2011-09-01	Mosaic supernumerary r(1)(p13.2q23.3) in a 10-year-old girl with epilepsy, facial asymmetry, psychomotor retardation, kyphoscoliosis, dermatofibrosarcoma and multiple exostoses	Chih-Ping Chen; Shuan-Pei Lin; Ming Chen; Yi-Ning Su; Schu-Rern Chern,; Tao-Yeuan Wang; Yu-Peng Liu; Fuu-Jen Tsai; Chen-Chi Lee; Yen-Jiun Chen; Wayseen Wang
[生物醫學研究所] 期刊論文	2011-09-01	Self-injurious behavior associated with trisomy 9p (9p13.1→p24.3)	Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Schu-Rern Chern; Fuu-Jen Tsai; Wen-Lin Chen; Wayseen Wang
[生物醫學研究所] 期刊論文	2011-06-01	Galloway-Mowat syndrome: prenatal ultrasound and perinatal magnetic resonance imaging findings	Chih-Ping Chen; Shuan-Pei Lin; Yu-Peng Liu; Jeng-Daw Tsai; Chen-Yu Chen; Shin-Lin Shih,; Fuu-Jen Tsai; Pei-Chen Wu; Wayseen Wang
[生物醫學研究所] 期刊論文	2011-05-01	Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene	Chia-Cheng Hung; Shin-Yu Lin; Chien-Nan Lee; Chih-Ping Chen; Shuan-Pei Lin; Mei-Chyn Chao; Shyh-Shin Chiou; Yi-Ning Su
[生物醫學研究所] 期刊論文	2011-03-01	Congenital tracheal stenosis in a boy with the 22q13.3 deletion syndrome	Chih-Ping Chen; Shuan-Pei Lin; Fuu-Jen Tsai; Schu-Rern Chern; Pei-Chen Wu; Chen-Chi Lee; Meng-Shan Lee; Yu-Ting Chen; Wayseen Wang
[生物醫學研究所] 期刊論文	2010-12-01	A 5.3-Mb duplication of 9p12→p13.1 characterized by array CGH in a female infant with developmental delay	Chih-Ping Chen; Shuan-Pei Lin; Schu-Rern Chern; Fuu-Jen Tsai,; Chen-Chi Lee; Chen-Wen Pan; Pei-Chen Wu; Wayseen Wang
[生物醫學研究所] 期刊論文	2010-12-01	Polysomnographic characteristics in patients with mucopolysaccharidoses	Hsiang-Yu Lin; Ming-Ren Chen; Ching-Chi Lin; Chih-Ping Chen; Dar-Shong Lin; Chih-Kuang Chuang; Dau-Ming Niu; Jui-Hung Chang; Hung-Chang Lee; Shuan-Pei Lin
[生物醫學研究所] 期刊論文	2010-09-01	A de novo 7.9 Mb deletion in 22q13.2→qter in a boy with autistic features, epilepsy, developmental delay atopic dermatitis and abnormal immunological findings	Chih-Ping Chen; Shuan-Pei Lin; Schu-Rern Chern; Fuu-Jen Tsai; Pei-Chen Wu; Chen-Chi Lee; Yu-Ting Chen; Wayseen Wang
[生物醫學研究所] 期刊論文	2010-09-01	Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and dsomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization	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
[生物醫學研究所] 期刊論文	2010-09-01	Mosaic trisomy 7 at amniocentesis: prenatal diagnosis and molecular genetic analyses	Chih-Ping Chen; Yi-Ning Su; Schu-Rern Chern; Yu-Ming Hwu; Shuan-Pei Lin; Chyong-Hsin Hsu; Fuu-Jen Tsai; Tao-Yeuan Wang; Pei-Chen Wu; Chen-Chi Lee; Yu-Ting Chen; Li-Feng Chen; Wayseen Wang
[生物醫學研究所] 期刊論文	2010-07-01	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	Chih-Ping Chen; Shuan-Pei Lin; Schu-Rern Chern; Yann-Jang Chen; Fuu-Jen Tsai; Pei-Chen Wu; Wayseen Wang
[生物醫學研究所] 期刊論文	2010-06-01	Apert syndrome associated with upper airway obstruction and gastroesophageal reflux including polyhydramnios in the third trimester	Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Chen-Yu Chen; Fuu-Jen Tsai; Yu-Peng Liu; Schu-Rern Chern; Pei-Chen Wu; Hsaio-En Cindy Chen; Wayseen Wang
[生物醫學研究所] 期刊論文	2010-06-01	Deletion 2q37.3→qter and duplication 15q24.3→qter characterized by array CGH in a girl with epilepsy and dysmorphic features	Chih-Ping Chen; Shuan-Pei Lin; Schu-Rern Chern; Fuu-Jen Tsai; Pei-Chen Wu; Chen-Chi Lee; Li-Feng Chen; Meng-Shan Lee; Wayseen Wang.
[生物醫學研究所] 期刊論文	2010-02-01	Prenatal diagnosis of X-linked myotubular myopathy	Chih-Ping Chen; Shuan-Pei Lin; Schu-Rern Chern; Fuu-Jen Tsai; Tao-Yeuan Wang; Hung-Hung Lin; Wayseen Wang
[生物醫學研究所] 期刊論文	2009-11-01	Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome	Chia-Cheng Hung; Shin-Yu Lin; Chien-Nan Lee; Hui-Yu Cheng; Shuan-Pei Lin; Ming-Ren Chen; Chih-Ping Chen; Chien-Hui Chang; Chiou-Ya Lin; Chih-Chieh Yu; Hsin-Hui Chiu,; Wen-Fang Cheng; Hong-Nerng Ho; Dau-Ming Niu; Yi-Ning Su
[生物醫學研究所] 期刊論文	2008-10-01	Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review	Chih-Ping Chen; Shuan-Pei Lin; Fuu-Jen Tsai; Tzu-Hao Wang; Schu-Rern Chern; Wayseen Wang
[生物醫學研究所] 期刊論文	2008-08-01	Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients	Wei-De Lin; Shuan-Pei Lin; Chung-Hsing Wang; Wuh-Liang Hwu; Chih-Kuang Chuang; Shio-Jean Lin; Yushin Tsai; Chih-Ping Chen; Fuu-Jen Tsai.
[生物醫學研究所] 期刊論文	2008-07-01	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	Chih-Ping Chen; Shuan-Pei Lin; Fuu-Jen Tsai; Schu-Rern Chern; Chen-Chi Lee; Wayseen Wang
[生物醫學研究所] 期刊論文	2008-06-01	Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation	Chih-Ping Chen; Shuan-Pei Lin; Yi-Ning Su; Shu-Chin Chien; Fuu-Jen Tsai; Wayseen Wang
[生物醫學研究所] 期刊論文	2008-06-01	Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation	Chih-Ping Chen; Shuan-Pei Lin; Fuu-Jen Tsai; Schu-Rern Chern; Wayseen Wang
[生物醫學研究所] 期刊論文	2008-06-01	Transient abnormal myelopoiesis of mosaic trisomy 21 presenting fetoplacental cytogenetic discrepancy, hepatosplenomegaly, oligohydramnios and abnormal hematological findings	Chih-Ping Chen; Shuan-Pei Lin; Fuu-Jen Tsai; Hung-Hung Lin; Schu-Rern Chern; Chih-Kuang Chuang; Chen-Chi Lee; Wayseen Wang
[生物醫學研究所] 期刊論文	2008-01-01	The -590 C/T and 8375 A/G interleukin-4 polymorphisms are not associated with Kawasaki disease in Taiwanese children.	Fu-Yuan Huang; Tzu-Yang Chang; Ming-Ren Chen; Hung-Chang Lee; Nan-Chang Chiu; Hsin Chi; Chyong-Hsin Hsu; Shuan-Pei Lin; Hsin-Fu Liu; Wei-Fang Chen; Chen-Chung Chu; Marie Lin; Yann-Jinn Lee
[生物醫學研究所] 期刊論文	2007-12-01	Abnormal prenatal hematological findings in congenital leukemia of Down syndrome with hepatosplenomegaly	Chih-Ping Chen; Shuan-Pei Lin; Tung-Yao Chang; Hsin-Tsung Ho
[生物醫學研究所] 期刊論文	2007-09-01	Human gene mutations. Gene symbol: EXT1. Disease: exostoses (multiple) 1	Wei-De Lin; Shuan-Pei Lin; Chih-Ping Chen; Fuu-Jen Tsai
[生物醫學研究所] 期刊論文	2007-09-01	Perinatal imaging findings of Galloway-Mowat syndrome	Chih-Ping Chen.; Shuan-Pei Lin; Jeng-Daw Tsai; Jon-Kway Huang; Jui-Lung Yen; Ching-Chang Tseng; Wayseen Wang
[生物醫學研究所] 期刊論文	2007-09-01	Prenatal sonographic findings of Klippel-Trénaunay-Weber syndrome	Chih-Ping Chen; Shuan-Pei Lin; Tung-Yao Chang; Hung-Chang Lee; Han-Yang Hung; Hsiang-Yu Lin; Jian-Pei Huang; Wayseen Wang
[生物醫學研究所] 期刊論文	2007-06-01	Genotype and phenotype in patients with Prader-Willi syndrome in Taiwan	Hsiang-Yu Lin; Shuan-Pei Lin; Chih-Kuang Chuang; Ming-Ren Chen; Jui-Lung Yen; Yann-Jinn Lee; Chi-Yu Huang; Li-Ping Tsai; Dau-Ming Niu; Mei-Chyn Chao; Pao-Lin Kuo
[生物醫學研究所] 期刊論文	2007-03-01	Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome)	Chih-Ping Chen; Shuan-Pei Lin; Chin-Yuan Tzen; Wuh-Liang Hwu; Schu-Rern Chern; Chih-Kuang Chuang; Shu-Shien Chiang; Wayseen Wang
[生物醫學研究所] 期刊論文	2007-03-01	Prader-Willi syndrome in Taiwan	Hsiang-Yu Lin; Shuan-Pei Lin; Jui-Lung Yen; Yann-Jinn Lee; Chi-Yu Huang; Han-Yang Hung; Chyong-Hsin Hsu; Hsin-An Kao; Jui-Hsing Chang; Nan-Chang Chiu; Che-Sheng Ho; Mei-Chyn Chao; Dan-Ming Niu; Li-Ping Tsai; Pao-Lin Kuo
[生物醫學研究所] 期刊論文	2003-06-01	Percutaneous endoscopic gastrostomy in children: 15 cases experience	Ting-Chi Yeh; Chun Yan Yeung; Jin-Cherng Sheu; Hung-Chang Lee; Shuan-Pei Lin; Chyong-Hsin Hsu; Yann-Jinn Lee; Nan-Chang Chiu; Che-Sheng Ho
[生物醫學研究所] 期刊論文	2002-01-01	Airway changes in children with mucopolysaccharidoses: CT evaluation	Shin-Lin Shih; Yann-Jinn Lee; Shuan-Pei Lin; Chin-Yin Sheu; Johan G. Blickman
[生物醫學研究所] 期刊論文	1999-02-01	Congenital nasal pyriform aperture stenosis: A diagnostic clue to solitary maxillary central incisor prior to eruption in three infants	Fu-Sung Lo; Kuo-Sheng Lee; Lih-Sheng Chen; Han-Yang Hung; Chyong-Hsin Hsu; Shuan-Pei Lin; Yann-Jinn Lee
[聽力暨語言治療學系] 期刊論文	2014-04-01	Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses	Hsiang-Yu Lin; Shou-Chuan Shih; Chih-Kuang Chuang; Kuo-Sheng Lee; Ming-Ren Chen; Hung-Ching Lin; Pao Chin Chiu; Dau-Ming Niu; Shuan-Pei Lin
[聽力暨語言治療學系] 期刊論文	2011-06-01	Other impairment associated with developmental language delay in preschool-aged children	Yao-Chia Chuang; Chia-Yu Hsu; Nan-Chang Chiu; Shuan-Pei Lin; Ruu-Fen Tzang; Cheng-Chien Yang
[醫學系] 期刊論文	2011-05-01	Sebaceous nevus syndrome, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and pigmented nevus syndrome	Chih-Wei Hsieh; Yu-Hung Wu; Shuan-Pei Lin; Chun-Chih Peng; Che-Sheng Ho
[醫學系] 期刊論文	2009-12-01	Lafora disease and congenital generalized lipodystrophy: a case report	Chih-Fan Tseng; Che-Sheng Ho; Nan-Chang Chiu; Shuan-Pei Lin; Chi-Yuan Tzen; Yu-Hung Wu
[醫學系] 期刊論文	2002-01-01	Bilateral calcified ovarian fibromas in a patient with Sotos syndrome	Chih-Ping Chen; Yuh-Cheng Yang; Shuan-Pei Lin; Wayseen Wang; Chih-Long Chang; Kuo-Ming Chang