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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 2013-10 An interstitial deletion of 8q23.3-q24.22 associated with Langer-Giedion syndrome, Cornelia de Lange syndrome and epilepsy 陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;Liu, Yu-Peng;Liu, Yu-Peng;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Su, Jun-Wei;Su, Jun-Wei;Chen, Yu-Ting;Chen, Yu-Ting;Lee, Chen-Chi;Lee, Chen-Chi;Wang, Wayseen;Wang, Wayseen
亞洲大學 2013-10 Mosaic small supernumerary marker chromosome 1 at amniocentesis: prenatal diagnosis, molecular genetic analysis and literature review 陳持平;Chen, Chih-Ping;Chen, Ming;Chen, Ming;Su, Yi-Ning;Su, Yi-Ning;Hua, Jian-Pei;Huang, Jian-Pei;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Su, Jun-Wei;Su, Jun-Wei;Ch, Shun-Ping;Chang, Shun-Ping;Chen, Li-Feng;Chen, Li-Feng;Pan, Chen-Wen;Pan, Chen-Wen;Wang, Wayseen;Wang, Wayseen
亞洲大學 2013-10 Prenatal diagnosis and molecular cytogenetic characterization of a de novo proximal interstitial deletion of chromosome 4p (4p15.2->p14) 陳持平;Chen, Chih-Ping;Meng-Ju Lee;Schu-Rern Chern;Peih-Shan Wu;Jun-Wei Su;Yu-Ting Chen;Meng-Shan Lee;Wayseen Wang
亞洲大學 2013-10 Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13 陳持平;Chen, Chih-Ping;Chin-Han Tsai;Schu-Rern Chern;Peih-Shan Wu;Jun-Wei Su;Chen-Chi Lee;Yu-Ting Chen;Wen-Lin Chen;Li-Feng Chen;Wayseen Wang
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 2013-07 6p21.2-p12.3 deletion detected by aCGH in an 8-year-old girl with cleidocranial dysplasia, psychomotor developmental delay and poor wound healing 陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;Liu, Yu-Peng;Liu, Yu-Peng;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Chen, Yu-Ting;Chen, Yu-Ting;Su, Jun-Wei;Su, Jun-Wei;Lee, Chen-Chi;Lee, Chen-Chi;Wang, Wayseen;Wang, Wayseen
亞洲大學 2013-07 Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: prenatal diagnosis and aCGH characterization using uncultured amniocytes 陳持平;Chen, Chih-Ping;Hu, Ming-Chao;Huang, Ming-Chao;Chen, Yi-Yung;Chen, Yi-Yung;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Chen, Yu-Ting;Chen, Yu-Ting;Su, Jun-Wei;Su, Jun-Wei;Wang, Wayseen;Wang, Wayseen
亞洲大學 2013-06 Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial deletion of 7q (7q22.1->q31.1) 陳持平;Chen, Chih-Ping;Shing-Jyh Chang;Schu-Rern Chern;Peih-Shan Wu;Yu-Ting Chen;Jun-Wei Su;Wen-Lin Chen;Wayseen Wang
亞洲大學 2013-06 Ring chromosome 21 presenting with sacrococcygeal teratoma: prenatal diagnosis, molecular cytogenetic characterization and literature review 陳持平;Chen, Chih-Ping;Cheng, Po-Jen;Cheng, Po-Jen;Shuenn-Dyh, C;Chang, Shuenn-Dyh;Lee, Yi-Xuan;Lee, Yi-Xuan;Sh, Jin-Chung;Shih, Jin-Chung;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Su, Jun-Wei;Su, Jun-Wei;Chen, Li-Feng;Chen, Li-Feng;Wang, Wayseen;Wang, Wayseen
亞洲大學 2013-06 A boy with cleft palate, hearing impairment, microcephaly, micrognathia and psychomotor retardation and a microdeletion in 6p25.3 involving the DUSP22 gene 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;Wang, Wayseen;Wang, Wayseen
亞洲大學 2013-04 Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization 陳持平;Chen, Chih-Ping;Lin, Chen-Ju;Lin, Chen-Ju;Cha, Tung-Yao;Chang, Tung-Yao;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Chen, Yu-Ting;Chen, Yu-Ting;Su, Jun-Wei;Su, Jun-Wei;Lee, Chen-Chi;Lee, Chen-Chi;Chen, Li-Feng;Chen, Li-Feng;Wang, Wayseen;Wang, Wayseen
亞洲大學 2013-03 Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 12q (12q24.21->qter) and partial monosomy 6q (6q27->qter) associated with coarctation of the aorta, ventriculomegaly and thickened nuchal fold 陳持平;Chen, Chih-Ping;Yi-Yung Chen;Schu-Rern Chern;Peih-Shan Wu;Jun-Wei Su;Yu-Ting Chen;Li-Feng Chen;Wayseen Wang
亞洲大學 2013-03 Prenatal diagnosis of partial trisomy 3q (3q27.3->qter) and partial monosomy 14q (14q31.3->qter) of paternal origin associated with fetal hypotonia, arthrogryposis, scoliosis and hyperextensible joints 陳持平;Chen, Chih-Ping;Cha, Yao-Lung;Chang, Yao-Lung;Ch, Schu-Rern;Chern, Schu-Rern;Wu, Peih-Shan;Wu, Peih-Shan;Su, Jun-Wei;Su, Jun-Wei;Chen, Wen-Lin;Chen, Wen-Lin;Chen, Li-Feng;Chen, Li-Feng;Wang, Wayseen;Wang, Wayseen
亞洲大學 2013-03 Discrepancy in the trisomy mosaicism level between cultured amniocytes and uncultured amniocytes in prenatally detected mosaic trisomy 20 陳持平;Chen, Chih-Ping;Shuenn-Dyh, C;Chang, Shuenn-Dyh;Chueh, Ho-Yen;Chueh, Ho-Yen;Su, Yi-Ning;Su, Yi-Ning;Ch, Schu-Rern;Chern, Schu-Rern;Su, Jun-Wei;Su, Jun-Wei;Chen, Yu-Ting;Chen, Yu-Ting;Chen, Li-Feng;Chen, Li-Feng;Le, Meng-Shan;Lee, Meng-Shan;Wang, Wayseen;Wang, Wayseen
亞洲大學 2013-03 Mosaic trisomy 12 at amniocentesis: prenatal diagnosis and molecular genetic analysis 陳持平;Chen, Chih-Ping;Su, Yi-Ning;Su, Yi-Ning;Su, Jun-Wei;Su, Jun-Wei;Ch, Schu-Rern;Chern, Schu-Rern;Chen, Yu-Ting;Chen, Yu-Ting;Chen, Li-Feng;Chen, Li-Feng;Wang, Wayseen;Wang, Wayseen
亞洲大學 2013-03 Placental mesenchymal dysplasia associated with antepartum hemorrhage, subchorionic hematoma and intrauterine growth restriction 陳持平;Chen, Chih-Ping;Hs, Chin-Yuan;Hsu, Chin-Yuan;Su, Yi-Ning;Su, Yi-Ning;Wa, Tao-Yeuan;Wang, Tao-Yeuan;Chen, Yi-Yung;Chen, Yi-Yung;Ch, Schu-Rern;Chern, Schu-Rern;Su, Jun-Wei;Su, Jun-Wei;Wang, Wayseen;Wang, Wayseen
亞洲大學 2013-03 Prenatal diagnosis and molecular cytogenetic characterization of a proximal deletion of 22q (22q11.2->q11.21) 陳持平;Chen, Chih-Ping;Tsang-Ming Ko;Yi-Ning Su;Jun-Wei Su;Yu-Ting Chen;Chen-Chi Lee;Li-Feng Chen;Wayseen Wang
亞洲大學 2013-03 Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome 陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;Su, Yi-Ning;Su, Yi-Ning;Ch, Schu-Rern;Chern, Schu-Rern;Su, Jun-Wei;Su, Jun-Wei;Wang, Wayseen;Wang, Wayseen
亞洲大學 2013-03 Prenatal diagnosis of and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3->q23.3) associated with abnormal maternal serum biochemistry 陳持平;Chen, Chih-Ping;Su, Yi-Ning;Su, Yi-Ning;Li, Shuan-Pei;Lin, Shuan-Pei;Ch, Schu-Rern;Chern, Schu-Rern;Su, Jun-Wei;Su, Jun-Wei;Chen, Yu-Ting;Chen, Yu-Ting;Le, Meng-Shan;Lee, Meng-Shan;Wang, Wayseen;Wang, Wayseen
亞洲大學 2013-03 Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism 陳持平;Chen, Chih-Ping;Li, Shuan-Pei;Lin, Shuan-Pei;Su, Yi-Ning;Su, Yi-Ning;Ch, Schu-Rern;Chern, Schu-Rern;Su, Jun-Wei;Su, Jun-Wei;Wang, Wayseen;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 2013 Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3->q32.12) associated with abnormal maternal serum biochemistry 陳持平;Chen, Chih-Ping;Kwui-Shuai Hwang;Her-Young Su;Shuan-Pei Lin;Yi-Ning Suk, Schu-Rern Chern;Jun-Wei Su;Yu-Ting Chen;Wen-Lin Chen;Wayseen Wang
亞洲大學 2012-11 A de novo 4.4-Mb microdeletion in 2p24.3->p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome 陳持平;Chen, Chih-Ping
亞洲大學 2012-09 Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III 陳持平;Chen, Chih-Ping
亞洲大學 2012-09 Monozygotic twins with trisomy 18 of paternal origin: prenatal diagnosis and molecular cytogenetic characterization in a pregnancy with one structurally abnormal living fetus and one intrauterine fetal demise 陳持平;Chen, Chih-Ping
亞洲大學 2012-09 Partial monosomy 3p (3p26.2->pter) and partial trisomy 5q (5q34->qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay 陳持平;Chen, Chih-Ping
亞洲大學 2012-09 Prenatal diagnosis and array comparative genomic hybridization characterization of a de novo X;Y translocation 陳持平;Chen, Chih-Ping;Yi-Ning Su;Schu-Rern Chern;Jun-Wei Su;Yu-Ting Chen;Chen-Chi Lee;Wayseen Wang
亞洲大學 2012-09 Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 2 陳持平;Chen, Chih-Ping;Jun-Wei Su, ;Alan Hwa-Ruey Hsieh, ;Hsieh, Alex Hwa-Jiun;Wang, Wayseen
亞洲大學 2012-09 Pure partial monosomy 3p (3p25.3->pter): prenatal diagnosis and array comparative genomic hybridization characterization 陳持平;Chen, Chih-Ping
亞洲大學 2012-09 Rapid aneuploidy diagnosis of trisomy 18 by array comparative genomic hybridization using uncultured amniocytes in a pregnancy with fetal arachnoid cyst detected in late second trimester 陳持平;Chen, Chih-Ping;Wayseen Wang,
亞洲大學 2012-09 Rapid positive confirmation of mosaicism for a small supernumerary marker chromosome as r(8) by interphase FISH, QF-PCR and aCGH on uncultured amniocytes in a pregnancy with fetal pyelectasis 陳持平;Chen, Chih-Ping;Chen-Wen Pan, ;Wang, Wayseen
亞洲大學 2012-09 Rapid positive confirmation of trisomy 21 mosaicism at amniocentesis by interphase FISH, QF-PCR and aCGH on uncultured amniocytes 陳持平;Chen, Chih-Ping;Dai-Dyi Town, ;Wen-Lin Chen, ;Chen, Li-Feng;Meng-Shan Lee, ;Pan, Chen-Wen;Wang, Wayseen
亞洲大學 2012-09 Usefulness of interphase FISH on uncultured amniocytes for rapid confirmation of low-level trisomy 7 mosaicism in a pregnancy with fetal intrauterine growth restriction and microcephaly 陳持平;Chen, Chih-Ping
亞洲大學 2012-06 A de novo supernumerary marker chromosome derived from chromosome 9p (9p13.1->p23) associated with attention deficit and hyperactivity disorder 陳持平;Chen, Chih-Ping
亞洲大學 2012-06 Identification of a COL1A2 mutation with a deletion spanning coding and intronic sequence in exon 19 and intron 19 in a fetus with osteogenesis imperfecta type II 陳持平;Chen, Chih-Ping
亞洲大學 2012-06 Identification of a deletion mutation in the short flanking repeat region of exon 44 of COL1A1 gene in a fetus with osteogenesis imperfecta type II 陳持平;Chen, Chih-Ping
亞洲大學 2012-06 Inv dup del(10q): Identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements 陳持平;Chen, Chih-Ping;Jun-Wei Su, ;Chen-Chi Lee, ;Town, Dai-Dyi;Wang, Wayseen
亞洲大學 2012-06 Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the asymptomatic father 陳持平;Chen, Chih-Ping
亞洲大學 2012-06 Osteogenesis imperfecta type II: prenatal diagnosis and association with increased nuchal translucency and hypoechogenicity of the cranium 陳持平;Chen, Chih-Ping
亞洲大學 2012-06 Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome 陳持平;Chen, Chih-Ping
亞洲大學 2012-06 Partial monosomy 9p (9p22.2->pter) and partial trisomy 18q (18q21.32->qter) in a female infant with anorectal malformations 陳持平;Chen, Chih-Ping
亞洲大學 2012-06 Phenotypic features associated with mosaic tetrasomy 9p in a 20-year-old female patient include autism spectrum disorder 陳持平;Chen, Chih-Ping
亞洲大學 2012-06 Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly 陳持平;Chen, Chih-Ping
亞洲大學 2012-06 Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene 陳持平;Chen, Chih-Ping
亞洲大學 2012-06 Prenatal findings and the genetic diagnosis of fetal overgrowth disorders:Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome 陳持平;Chen, Chih-Ping
亞洲大學 2012-06 Pure distal 11q deletion without additional genomic imbalances in a female infant with Jacobsen syndrome and a de novo unbalanced reciprocal translocation 陳持平;Chen, Chih-Ping
亞洲大學 2012-06 Pure distal 9p deletion in a female infant with cerebral palsy 陳持平;Chen, Chih-Ping
亞洲大學 2012-06 Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception 陳持平;Chen,Chih-Ping;Shuan-Pei Lin;Yi-Ning Su;Jian-Pei Huang;Schu-Rern Chern;Jun-Wei Su;Wayseen Wang
亞洲大學 2012-04 Persistent cloaca presenting with a perineal cyst: prenatal ultrasound and magnetic resonance imaging findings 陳持平;Chen, Chih-Ping
亞洲大學 2012-03 Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome 陳持平;Chen, Chih-Ping

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