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    Items for Author "Li, Shuan-Pei" 

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    Showing 17 items.

    Collection Date Title Authors Bitstream
    [生物科技學系] 期刊論文 2018-10 Array comparative genomic hybridization characterization of a 3.3-Mb 17p13.3-p13.2 deletion encompassing YWHAE, CRK, HIC1 and PAFAH1B1 in an 8-year-old girl with Miller-Dieker lissencephaly syndrome, congenital heart defects, growth restriction and developmental delay 陳持平; Chen, Chih-Ping; Cha, Shu-Yuan; Chang, Shu-Yuan; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Che, Shin-Wen; Chen, Shin-Wen; La, Shih-Ting; Lai, Shih-Ting; Chua, Tzu-Yun; Chuang, Tzu-Yun; Chen, Wen-Lin; Chen, Wen-Lin; Wang, Wayseen; Wang, Wayseen
    [生物科技學系] 期刊論文 2018-08 A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows 陳持平; Chen, Chih-Ping; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Che, Shin-Wen; Chen, Shin-Wen; La, Shih-Ting; Lai, Shih-Ting; Chua, Tzu-Yun; Chuang, Tzu-Yun; Chen, Wen-Lin; Chen, Wen-Lin; Wang, Wayseen; Wang, Wayseen
    [生物科技學系] 期刊論文 2018-08 A 17-year-old boy with Klinefelter syndrome presenting Marfan syndrome-like clinical features of tall stature, scoliosis, arachnodactyly and subluxation of bilateral elbow joints 陳持平; Chen, Chih-Ping; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Che, Shin-Wen; Chen, Shin-Wen; La, Shih-Ting; Lai, Shih-Ting; Chua, Tzu-Yun; Chuang, Tzu-Yun; Chen, Li-Feng; Chen, Li-Feng; Wang, Wayseen; Wang, Wayseen
    [生物科技學系] 期刊論文 2016-12 Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22->q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder and in 陳持平; Chen, Chih-Ping; *; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Chen, Yen-Ni; Chen, Yen-Ni; Che, Shin-Wen; Chen, Shin-Wen; Ya, Chien-Wen; Yang, Chien-Wen; Le, Meng-Shan; Lee, Meng-Shan; Wang, Wayseen; Wang, Wayseen
    [生物科技學系] 期刊論文 2016-12 Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12->q13.1::) associated with phenotypic abnormalities 陳持平; Chen, Chih-Ping; *; Li, Shuan-Pei; Lin, Shuan-Pei; Lin, Yi-Hui; Lin, Yi-Hui; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Chen, Yen-Ni; Chen, Yen-Ni; Che, Shin-Wen; Chen, Shin-Wen; Ya, Chien-Wen; Yang, Chien-Wen; Chen, Wen-Lin; Chen, Wen-Lin; Wang, Wayseen; Wang, Wayseen
    [生物科技學系] 期刊論文 2016-10 Molecular cytogenetic characterization of an inv dup(15) chromosome presenting as a small supernumerary marker chromosome associated with the inv dup(15) syndrome 陳持平; Chen, Chih-Ping; *; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Chen, Yen-Ni; Chen, Yen-Ni; Che, Shin-Wen; Chen, Shin-Wen; Lee, Chen-Chi; Lee, Chen-Chi; Town, Dai-Dyi; Town, Dai-Dyi; Ya, Chien-Wen; Yang, Chien-Wen; Wang, Wayseen; Wang, Wayseen
    [生物科技學系] 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; Chen, Chih-Ping; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Su, Jun-Wei; Su, Jun-Wei; Lee, Chen-Chi; Lee, Chen-Chi; Wang, Wayseen; Wang, Wayseen
    [生物科技學系] 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; Chen, Chih-Ping; Wang, Pu-Tsui; Wang, Pu-Tsui; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Chen, Yu-Ting; Chen, Yu-Ting; Wu, Peih-Shan; Wu, Peih-Shan; Kuo, Yu-Ling; Kuo, Yu-Ling; Chen, Wen-Lin; Chen, Wen-Lin; Wang, Wayseen; Wang, Wayseen
    [生物科技學系] 期刊論文 2014-02 Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2-qter deletion, 11q24.3-qter duplication and Xq22.3-q27.1 duplication in a girl with primary amenorrhea and mental retardation 陳持平; Chen, Chih-Ping; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Kuo, Yu-Ling; Kuo, Yu-Ling; Wu, Peih-Shan; Wu, Peih-Shan; Chen, Yu-Ting; Chen, Yu-Ting; Le, Meng-Shan; Lee, Meng-Shan; Wang, Wayseen; Wang, Wayseen
    [生物科技學系] 期刊論文 An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy 陳持平; Chen, Chih-Ping; Li, Shuan-Pei; Lin, Shuan-Pei; Liu, Yu-Peng; Liu, Yu-Peng; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Su, Jun-Wei; Su, Jun-Wei; Chen, Yu-Ting; Chen, Yu-Ting; Lee, Chen-Chi; Lee, Chen-Chi; Wang, Wayseen; Wang, Wayseen
    [生物科技學系] 期刊論文 2013-10 An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy 陳持平; Chen, Chih-Ping; Li, Shuan-Pei; Lin, Shuan-Pei; Liu, Yu-Peng; Liu, Yu-Peng; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Su, Jun-Wei; Su, Jun-Wei; Chen, Yu-Ting; Chen, Yu-Ting; Lee, Chen-Chi; Lee, Chen-Chi; Wang, Wayseen; Wang, Wayseen
    [生物科技學系] 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; Chen, Chih-Ping; Li, Shuan-Pei; Lin, Shuan-Pei; Liu, Yu-Peng; Liu, Yu-Peng; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Chen, Yu-Ting; Chen, Yu-Ting; Su, Jun-Wei; Su, Jun-Wei; Lee, Chen-Chi; Lee, Chen-Chi; Wang, Wayseen; Wang, Wayseen
    [生物科技學系] 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; Chen, Chih-Ping; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Su, Jun-Wei; Su, Jun-Wei; Wang, Wayseen; Wang, Wayseen
    [生物科技學系] 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; Chen, Chih-Ping; Li, Shuan-Pei; Lin, Shuan-Pei; Su, Yi-Ning; Su, Yi-Ning; Ch, Schu-Rern; Chern, Schu-Rern; Su, Jun-Wei; Su, Jun-Wei; Wang, Wayseen; Wang, Wayseen
    [生物科技學系] 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; Chen, Chih-Ping; Su, Yi-Ning; Su, Yi-Ning; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Su, Jun-Wei; Su, Jun-Wei; Chen, Yu-Ting; Chen, Yu-Ting; Le, Meng-Shan; Lee, Meng-Shan; Wang, Wayseen; Wang, Wayseen
    [生物科技學系] 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; Chen, Chih-Ping; Li, Shuan-Pei; Lin, Shuan-Pei; Su, Yi-Ning; Su, Yi-Ning; Ch, Schu-Rern; Chern, Schu-Rern; Su, Jun-Wei; Su, Jun-Wei; Wang, Wayseen; Wang, Wayseen
    [生物資訊與醫學工程學系 ] 期刊論文 2016-12 Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability 陳持平; Chen, Chih-Ping; *; Li, Shuan-Pei; Lin, Shuan-Pei; Ch, Schu-Rern; Chern, Schu-Rern; Wu, Peih-Shan; Wu, Peih-Shan; Chen, Yen-Ni; Chen, Yen-Ni; Che, Shin-Wen; Chen, Shin-Wen; Ya, Chien-Wen; Yang, Chien-Wen; Le, Meng-Shan; Lee, Meng-Shan; Wang, Wayseen; Wang, Wayseen

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