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机构 日期 题名 作者
亞洲大學 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
亞洲大學 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
亞洲大學 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
亞洲大學 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
亞洲大學 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
亞洲大學 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
亞洲大學 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
亞洲大學 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
亞洲大學 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
亞洲大學 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

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