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教育部委託研究計畫      計畫執行:國立臺灣大學圖書館
 
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機構 日期 題名 作者
亞洲大學 2018-10 Detection of hypomethylation of H19 in a pregnancy with limb-body wall complex 陳持平;Chen, Chih-Ping;Cha, Shu-Yuan;Chang, Shu-Yuan;Hu, Ming-Chao;Huang, Ming-Chao;Ch, Schu-Rern;Chern, Schu-Rern;Che, Shin-Wen;Chen, Shin-Wen;La, Shih-Ting;Lai, Shih-Ting;Chua, Tzu-Yun;Chuang, Tzu-Yun;Wang, Wayseen;Wang, Wayseen
亞洲大學 2018-10 First-trimester cystic hygroma and omphalocele in a fetus with Turner syndrome 陳持平;Chen, Chih-Ping;Cha, Shu-Yuan;Chang, Shu-Yuan;La, Hui-Shuan;Lau, Hui-Shuan;Che, Shin-Wen;Chen, Shin-Wen;La, Shih-Ting;Lai, Shih-Ting;Chua, Tzu-Yun;Chuang, Tzu-Yun;Le, Meng-Shan;Lee, Meng-Shan;Wang, Wayseen;Wang, Wayseen
亞洲大學 2018-10 Prenatal diagnosis of a familial 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction on prenatal ultrasound 陳持平;Chen, Chih-Ping;Cha, Shu-Yuan;Chang, Shu-Yuan;Wa, Liang-Kai;Wang, Liang-Kai;Cha, Tung-Yao;Chang, Tung-Yao;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Chen, hin-Wen;Chen, hin-Wen;La, Shih-Ting;Lai, Shih-Ting;Chua, Tzu-Yun;Chuang, Tzu-Yun;Ya, Chien-Wen;Yang, Chien-Wen
亞洲大學 2018-10 Prenatal diagnosis of a familial 1q21.1-q21.2 microdeletion in a fetus with polydactyly of left foot on prenatal ultrasound 陳持平;Chen, Chih-Ping;Cha, Shu-Yuan;Chang, Shu-Yuan;Chen, Yen-Ni;Chen, Yen-Ni;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;Ya, Chien-Wen;Yang, Chien-Wen;Chen, Li-Feng;Chen, Li-Feng
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 Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disability 陳持平;Chen, Chih-Ping;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;Ya, Chien-Wen;Yang, Chien-Wen;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 2018-02 Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia 陳持平;Chen, Chih-Ping;*;Cha, Tung-Yao;Chang, Tung-Yao;Lin, Tan-Wei;Lin, Tan-Wei;Ch, Schu-Rern;Chern, Schu-Rern;Che, Shin-Wen;Chen, Shin-Wen;La, Shih-Ting;Lai, Shih-Ting;Chua, Tzu-Yun;Chuang, Tzu-Yun;Wang, Wayseen;Wang, Wayseen
亞洲大學 2018-02 Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly ;SRTD3; associated with compound heterozygous mutations in DYNC2H1 in a fetus 陳持平;Chen, Chih-Ping;*;Tsang-Ming, K;Ko, Tsang-Ming;Cha, Tung-Yao;Chang, Tung-Yao;Ch, Schu-Rern;Chern, Schu-Rern;Che, Shin-Wen;Chen, Shin-Wen;La, Shih-Ting;Lai, Shih-Ting;Chua, Tzu-Yun;Chuang, Tzu-Yun;Wang, Wayseen;Wang, Wayseen

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