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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)
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Institution Date Title Author
國立交通大學 2018-08-21T05:53:02Z Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening Chien, Yin-Hsiu; Chiang, Shu-Chuan; Weng, Wen-Chin; Lee, Ni-Chung; Lin, Ching-Jie; Hsieh, Wu-Shiun; Lee, Wang-Tso; Jong, Yuh-Jyh; Ko, Tsang-Ming; Hwu, Wuh-Liang
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
亞洲大學 2018-02 Prenatal diagnosis of a 0.7-Mb 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities 陳持平;Chen, Chih-Ping;*;Tsang-Ming, K;Ko, Tsang-Ming;Wa, Liang-Kai;Wang, Liang-Kai;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;Lee, Chen-Chi;Lee, Chen-Chi;Wang, Wayseen;Wang, Wayseen
亞洲大學 2017-12 Prenatal diagnosis and molecular cytogenetic characterization of low-level mosaicism for tetrasomy 18p at amniocentesis in a pregnancy with a favorable outcome 陳持平;Chen, Chih-Ping;Tsang-Ming, K;Ko, Tsang-Ming;Chen, Yi-Yung;Ch, Schu-Rern;Chern, Schu-Rern;Che, Shin-Wen;Chen, Shin-Wen;La, Shih-Ting;Lai, Shih-Ting;Chua, Tzu-Yun;Chuang, Tzu-Yun;Ya, Chien-Wen;Yang, Chien-Wen;Pan, Chen-Wen;Wang, Wayseen
亞洲大學 2016-10 Prenatal diagnosis and molecular cytogenetic characterization of rec(10)dup(10p)inv(10)(p11.2q26.3) in a fetus associated with paternal pericentirc inversion 陳持平;Chen, Chih-Ping;*;Tsang-Ming, K;Ko, Tsang-Ming;Su, Yi-Ning;Su, Yi-Ning;Wa, Liang-Kai;Wang, Liang-Kai;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Chen, Yen-Ni;Chen, Yen-Ni;Che, Shin-Wen;Che, Shin-Wen;Town, Dai-Dyi;Town, Dai-Dyi;Chen, Li-Feng;Chen, Li-Feng;Ya, Chien-Wen;Yang, Chien-Wen;Wang, Wayseen;Wang, Wayseen
亞洲大學 2016-06 Molecular cytogenetic characterization of inv dup del;8p; in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction 陳持平;Chen, Chih-Ping;*;Tsang-Ming, K;Ko, Tsang-Ming;Huan, Wen-Chu;Huang, Wen-Chu;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;Chen-Wen Pan;Wang, Wayseen;Wang, Wayseen
亞洲大學 2016-06 Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction 陳持平;Chen, Chih-Ping;*;Tsang-Ming, K;Ko, Tsang-Ming;Huan, Wen-Chu;Huang, Wen-Chu;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;Chen-Wen Pan;Wang, Wayseen;Wang, Wayseen
亞洲大學 2016-04 Prenatal diagnosis of low-level mosaicism for trisomy 2 associated with a favorable pregnancy outcome 陳持平;Chen, Chih-Ping;*;Tsang-Ming, K;Ko, Tsang-Ming;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Chen, Yen-Ni;Chen, Yen-Ni;Che, Shin-Wen;Chen, Shin-Wen;Chen, Li-Feng;Chen, Li-Feng;Ya, Chien-Wen;Yang, Chien-Wen;Wang, Wayseen;Wang, Wayseen
亞洲大學 2016-02 Prenatal diagnosis of 22q11.2 deletion syndrome associated with right aortic arch, left ductus arteriosus, cardiomegaly, and pericardial effusion Chen, Yen-Ni;Chen, Yen-Ni;陳持平*;Tsang-Ming, K;Ko, Tsang-Ming;Wa, Liang-Kai;Wang, Liang-Kai;Wu, Pei-Chen;Wu, Pei-Chen;Cha, Tung-Yao;Chang, Tung-Yao;Wu, Peih-Shan;Wu, Peih-Shan;Ya, Chien-Wen;Yang, Chien-Wen;Wang, Wayseen;Wang, Wayseen
亞洲大學 201502 Detection of de novo secondary trisomy 13 due to isochromosome ;13q;13q) of paternal origin in a pregnancy with fetal cystic hygroma 陳持平*; Tsang-Ming, K;Ko, Tsang-Ming;Hu, Ming-Chao;Huang, Ming-Chao;Ch, Schu-Rern;Chern, Schu-Rern;Lin, Tan-Wei;Lin, Tan-Wei;Cha, Tung-Yao;Chang, Tung-Yao;Kuo, Yu-Ling;Kuo, Yu-Ling;Chen, Wen-Lin;Chen, Wen-Lin;Wang, Wayseen;Wang, Wayseen
亞洲大學 2015-02 Detection of de novo secondary trisomy 13 due to isochromosome (13q;13q) of paternal origin in a pregnancy with fetal cystic hygroma 陳持平*;Tsang-Ming, K;Ko, Tsang-Ming;Hu, Ming-Chao;Huang, Ming-Chao;Ch, Schu-Rern;Chern, Schu-Rern;Lin, Tan-Wei;Lin, Tan-Wei;Cha, Tung-Yao;Chang, Tung-Yao;Kuo, Yu-Ling;Kuo, Yu-Ling;Chen, Wen-Lin;Chen, Wen-Lin;Wang, Wayseen;Wang, Wayseen
亞洲大學 2015-02 Detection of de novo secondary trisomy 13 due to isochromosome ;13q;13q; of paternal origin in a pregnancy with fetal cystic hygroma 陳持平;Tsang-Ming, K;Ko, Tsang-Ming;Hu, Ming-Chao;Huang, Ming-Chao;Ch, Schu-Rern;Chern, Schu-Rern;Lin, Tan-Wei;Lin, Tan-Wei;Cha, Tung-Yao;Chang, Tung-Yao;Kuo, Yu-Ling;Kuo, Yu-Ling;Chen, Wen-Lin;Chen, Wen-Lin;Wang, Wayseen;Wang, Wayseen
亞洲大學 2015-02 Detection of de novo secondary trisomy 13 due to isochromosome (13q;13q ; of paternal origin in a pregnancy with fetal cystic hygroma ;Ko, Tsang-Ming;Hu, Ming-Chao;Huang, Ming-Chao;Ch, Schu-Rern;Chern, Schu-Rern;Lin, Tan-Wei;Lin, Tan-Wei;Cha, Tung-Yao;Chang, Tung-Yao;Kuo, Yu-Ling;Kuo, Yu-Ling;Chen, Wen-Lin;Chen, Wen-Lin;Wang, Wayseen;Wang, Wayseen
亞洲大學 2014-03 Interphase FISH on uncultured amniocytes at repeat amniocentesis for rapid confirmation of low-level mosaicism for tetrasomy 18p 陳持平;Chen, Chih-Ping;Lin, Chen-Ju;Lin, Chen-Ju;Tsang-Ming, K;Ko, Tsang-Ming;Ch, Schu-Rern;Chern, Schu-Rern;Chen, Yu-Ting;Chen, Yu-Ting;Wu, Peih-Shan;Wu, Peih-Shan;Kuo, Yu-Ling;Kuo, Yu-Ling;Le, Meng-Shan;Lee, Meng-Shan;Wang, Wayseen;Wang, Wayseen
亞洲大學 201309 Mosaic trisomy 14 at amniocentesis: prenatal diagnosis and literature review 陳持平;Chen, Chih-Ping;Wang, Kuo-Gon;Wang, Kuo-Gon;Tsang-Ming, K;Ko, Tsang-Ming;Ch, Schu-Rern;Chern, Schu-Rern;Su, Jun-Wei;Su, Jun-Wei;Town, Dai-Dyi;Town, Dai-Dyi;Wang, Wayseen;Wang, Wayseen
亞洲大學 2013-09 Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 22 associated with cat eye syndrome 陳持平;Chen, Chih-Ping;Tsang-Ming, K;Ko, Tsang-Ming;Chen, Yi-Yung;Su, Jun-Wei;Wang, Wayseen;
亞洲大學 2013-01 Array comparative genomic hybridization characterization of prenatally detected de novo apparently balanced reciprocal translocations with or without genomic imbalance in other chromosome 陳持平;Chen, Chih-Ping;Chen, Ming;Chen, Ming;Ma, Gwo-Chin;Ma, Gwo-Chin;Su, Yi-Ning;Su, Yi-Ning;Tsang-Ming, K;Ko, Tsang-Ming;Lin, Yi-Hui;Lin, Yi-Hui;Wang, Wayseen;Wang, Wayseen
亞洲大學 2010-12 Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 8 陳持平;Chen, Chih-Ping;Chen, Ming;Ko, Tsang-Ming;Ma, Gwo-Chin;Tsai, Fuu-Jen;Tsai, Ming-Song;Wu, Pei-Chen;Lee, Chen-Chi;Che, Li-Feng;Wang, Wayseen
亞洲大學 2010-09 Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 21 陳持平;Chen, Chih-Ping;Lin, Chyi-Chyang;Ko, Tsang-Ming;Tsai, Fuu-Jen;Chern, Schu-Rern;Lee, Chen-Chi;Chen, Yu-Ting;Wu, Pei-Chen;Wang, Wayseen
國立臺灣大學 2009 Thirteen X-Chromosomal Short Tandem Repeat Loci Multiplex Data from Taiwanese 華筱玲; 李俊億; 陳雅惠; 曾麗慧; 蘇怡寧; 柯滄銘; HWA, HSIAO-LIN; LEE, JAMES CHUN-I; CHEN, YA-HUI; TSENG, LI-HUI; SU, YI-NING; KO, TSANG-MING
國立臺灣大學 2009 Pseudogene-Derived Ikbkg Gene Mutations in Incontinentia Pigmenti 李妮鍾; 胡務亮; 簡穎秀; 柯滄銘; LEE, NI-CHUNG; HWU, WUH-LIANG; CHIEN, YIN-HSIU; KO, TSANG-MING
國立臺灣大學 2007 The Carrier Frequency and Mutation Profile Of? Eta-Thalassemia in Taiwan 林凱信; 張淑惠; 蘇怡寧; 蘇喜; 柯滄銘; LIN, KAI-HSIN; CHANG, SHU-HUI; SU, YI- NING; SU, SYI; KO, TSANG-MING
國立臺灣大學 2007 Risk Prediction for Down's Syndrome in Young Pregnant Women Using Maternal Serum Biomarkers: Determination of Cut-Off Risk from Receiver Operating Characteristic Curve Analysis 華筱玲; 柯滄銘; 謝豐舟; 嚴明芳; 周楷沛; 陳秀熙; HWA, HSIAO-LIN; KO, TSANG-MING; HSIEH, FON-JOU; YEN, AMY MING-FANG; CHOU, KAI-PEI; CHEN, TONY HSIU-HSI
國立臺灣大學 2007 Multiplex Ligation-Dependent Probe Amplification Identification of Deletions and Duplications of the Duchenne Muscular Dystrophy Gene in Taiwanese Subjects 華筱玲; 陳春雄; 鐘育志; 趙美琴; 柯滄銘; HWA, HSIAO-LIN; CHEN, CHUNG-HSIUNG; JONG, YUH-JYH; CHAO, MEI-CHYN; KO, TSANG-MING
國立臺灣大學 2006 Prenatal Diagnosis and Genetic Analysis of a Fetus with 47,Xx,+21/46,Xx Mosaicism and Xx/Xy Chimerism 華筱玲; 柯滄銘; 張麗束; HWA, HSIAO-LIN; KO, TSANG-MING; CHANG, LI-SHU

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