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    Items for Author "Chuang, Tzu-Yun" 

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    Showing 18 items.

    Collection Date Title Authors Bitstream
    [生物科技學系] 期刊論文 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
    [生物科技學系] 期刊論文 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
    [生物科技學系] 期刊論文 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
    [生物科技學系] 期刊論文 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
    [生物科技學系] 期刊論文 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
    [生物科技學系] 期刊論文 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
    [生物科技學系] 期刊論文 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
    [生物科技學系] 期刊論文 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
    [生物科技學系] 期刊論文 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
    [生物科技學系] 期刊論文 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
    [生物科技學系] 期刊論文 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
    [生物科技學系] 期刊論文 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
    [生物科技學系] 期刊論文 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
    [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 2018-10 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
    [生物科技學系] 期刊論文 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
    [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

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