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"陳持平"

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Showing items 121-145 of 339  (14 Page(s) Totally)
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Institution Date Title Author
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

Showing items 121-145 of 339  (14 Page(s) Totally)
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