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显示项目 11-35 / 99 (共4页)
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机构 日期 题名 作者
亞洲大學 2019-11 Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 3 陳持平;Chen, Chih-Ping;Tsang-Ming, K;Ko, Tsang-Ming;Chen, Chen-Yu;Chen, Chen-Yu;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Che, Shin-Wen;Chen, Shin-Wen;Wu, Fang-Tzu;Wu, Fang-Tzu;Pan, Chen-Wen;Pan, Chen-Wen;Wang, Wayseen;Wang, Wayseen
亞洲大學 2019-11 Prenatal diagnosis of mosaicism for trisomy 7 in a single colony at amniocentesis in a pregnancy with a favorable outcome 陳持平;Chen, Chih-Ping;Hung, Fang-Yu;Hung, Fang-Yu;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Che, Shin-Wen;Chen, Shin-Wen;Wu, Fang-Tzu;Wu, Fang-Tzu;Town, Dai-Dyi;Town, Dai-Dyi;Wang, Wayseen;Wang, Wayseen
亞洲大學 2019-11 Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound 陳持平;Chen, Chih-Ping;Hua, Jian-Pei;Huang, Jian-Pei;Chen, Yi-Yung;Chen, Yi-Yung;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Che, Shin-Wen;Chen, Shin-Wen;Wang, Wayseen;Wang, Wayseen;Lee, Chen-Chi;Lee, Chen-Chi
亞洲大學 2019-09 Mosaic trisomy 22 at amniocentesis: prenatal diagnosis and literature review 陳持平;Chen, Chih-Ping;Hu, Ming-Chao;Huang, Ming-Chao;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Che, Shin-Wen;Chen, Shin-Wen;Chua, Tzu-Yun;Chuang, Tzu-Yun;Town, Dai-Dyi;Town, Dai-Dyi;Wang, Wayseen;Wang, Wayseen
亞洲大學 2019-09 Detection of de novo del(18)(q22.2) and a familial of 15q13.2-q13.3 microduplication in a fetus with congenital heart defects 陳持平;Chen, Chih-Ping;Chen, Chen-Yu;Chen, Chen-Yu;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Che, Shin-Wen;Chen, Shin-Wen;Wu, Fang-Tzu;Wu, Fang-Tzu;Chen, Li-Feng;Chen, Li-Feng;Wang, Wayseen;Wang, Wayseen
亞洲大學 2019-09 Inv dup del(10p): prenatal diagnosis and molecular cytogenetic characterization 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;Wu, Fang-Tzu;Wu, Fang-Tzu;Chen, Li-Feng;Chen, Li-Feng;Wang, Wayseen;Wang, Wayseen
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 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 2018-10 Prenatal diagnosis of a familial 5p14.3-p14.1 deletion encompassing CDH18, CDH12, PMCHL1, PRDM9 and CDH10 in a fetus with congenital heart disease on prenatal ultrasound 陳持平;Chen, Chih-Ping;Cha, Shu-Yuan;Chang, Shu-Yuan;Lin, Chen-Ju;Lin, Chen-Ju;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Che, Shin-Wen;Chen, Shin-Wen;Lai, hih-Ting;Lai, hih-Ting;Chua, Tzu-Yun;Chuang, Tzu-Yun;Chen, Wen-Lin;Chen, Wen-Lin;Ya, Chien-Wen;Yang, Chien-Wen
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
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 2017-12 Prenatal diagnosis and molecular cytogenetic characterization of an interstitial deletion of 18q12.1-q12.3 encompassing DTNA, CELF4 and SETBP1 陳持平;Chen, Chih-Ping;Hs, Chih-Heng;Hsieh, Chih-Heng;Ch, Schu-Rern;Chern, Schu-Rern;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;Wang, Wayseen
亞洲大學 2017-12 Fetoplacental cytogenetic discrepancy in a pregnancy with fetal mosaic tetrasomy 12p and Pallister-Killian syndrome detected by amniocentesis 陳持平;Chen, Chih-Ping;Wa, Liang-Kai;Wang, Liang-Kai;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Che, Shin-Wen;Chen, Shin-Wen;La, Shih-Ting;Lai, Shih-Ting;Chua, Tzu-Yun;Chuang, Tzu-Yun;Chen, Li-Feng;Wang, Wayseen
亞洲大學 2017-12 Prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis associated with a favorable outcome 陳持平;Chen, Chih-Ping;Ch, Schu-Rern;Chern, Schu-Rern;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;Wang, Wayseen
亞洲大學 2017-12 Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones 陳持平;Chen, Chih-Ping;Chen, Chen-Yu;Ch, Schu-Rern;Chern, Schu-Rern;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;Wang, Wayseen
亞洲大學 2017-12 Prenatal diagnosis of an 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction on fetal ultrasound 陳持平;Chen, Chih-Ping;Cha, Tung-Yao;Chang, Tung-Yao;Hung, Fang-Yu;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Che, Shin-Wen;Chen, Shin-Wen;La, Shih-Ting;Lai, Shih-Ting;Chua, Tzu-Yun;Chuang, Tzu-Yun;Lee, Chen-Chi;Wang, Wayseen
亞洲大學 2017-10 Application of non-invasive prenatal testing in late gestation in a pregnancy associated with intrauterine growth restriction and trisomy 22 confined placental mosaicism 陳持平;Chen, Chih-Ping;Tsai, Chris;Tsai, Chris;Li, Ming-Huei;Lin, Ming-Huei;Ch, Schu-Rern;Chern, Schu-Rern;Che, Shin-Wen;Chen, Shin-Wen;La, Shih-Ting;Lai, Shih-Ting;Chen, Wen-Lin;Pan, Chen-Wen;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

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