| 篇名 | 作者 | 刊名 | 出版年 | 查看 |
|---|
| Mosaic deletion-duplication syndrome of chromosome 3: Prenatalmolecular cytogenetic diagnosis using cultured and uncultured amniocytesand association with fetoplacental discrepancy |
Chen, C.P.;Su, Y.N.;Hsu, C.Y.;Chern, S.R.;Lee, C.C.;Chen, Y.T.;Chen, W.L.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2011-12-01 |
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| A de novo duplication of chromosome 21q22.11->qter associated with Downsyndrome: Prenatal diagnosis, molecular cytogenetic characterization andfetal ultrasound findings |
Chen, C.P.;Huang, H.K.;Ling, P.Y.;Su, Y.N.;Chen, M.;Tsai, F.J.;Wu, P.C.;Chern, S.R.;Chen, Y.T.;Lee, C.C.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2011-12-01 |
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| Wolf-Hirschhorn (4p-) syndrome: Prenatal diagnosis, molecularcytogenetic characterization and association with a 1.2-Mb microduplicationat 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with anapparently pure 4p deletion |
Chen, C.P.;Su, Y.N.;Chen, Y.Y.;Su, J.W.;Chern, S.R.;Chen, Y.T.;Chen, W.L.;Chen, L.F.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2011-12-01 |
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| Prenatal diagnosis of mosaic trisomy 9 |
Chen, C.P.;Hung, F.Y.;Su, Y.N.;Chern, S.R.;Su, J.W.;Lee, C.C.;Chen, Y.T.;Chen, W.L.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2011-12-01 |
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| Prenatal diagnosis of a de novo 17p13.1 microduplication in a fetuswith ventriculomegaly and lissencephaly |
Chen, C.P.;Su, Y.N.;Hsu, C.Y.;Liu, Y.P.;Chern, S.R.;Chen, L.F.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2011-12-01 |
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| Prenatal diagnosis of mosaic trisomy 9 |
Chen, C.P.;Hung, F.Y.;Su, Y.N.;Chern, S.R.;Su, J.W.;Lee, C.C.;Chen, Y.T.;Chen, W.L.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2011-12-01 |
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| Prenatal diagnosis of a de novo 17p13.1 microduplication in a fetuswith ventriculomegaly and lissencephaly |
Chen, C.P.;Su, Y.N.;Hsu, C.Y.;Liu, Y.P.;Chern, S.R.;Chen, L.F.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2011-12-01 |
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| Mosaic deletion-duplication syndrome of chromosome 3: Prenatalmolecular cytogenetic diagnosis using cultured and uncultured amniocytesand association with fetoplacental discrepancy |
Chen, C.P.;Su, Y.N.;Hsu, C.Y.;Chern, S.R.;Lee, C.C.;Chen, Y.T.;Chen, W.L.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2011-12-01 |
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| A de novo duplication of chromosome 21q22.11->qter associated with Downsyndrome: Prenatal diagnosis, molecular cytogenetic characterization andfetal ultrasound findings |
Chen, C.P.;Huang, H.K.;Ling, P.Y.;Su, Y.N.;Chen, M.;Tsai, F.J.;Wu, P.C.;Chern, S.R.;Chen, Y.T.;Lee, C.C.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2011-12-01 |
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| Wolf-Hirschhorn (4p-) syndrome: Prenatal diagnosis, molecularcytogenetic characterization and association with a 1.2-Mb microduplicationat 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with anapparently pure 4p deletion |
Chen, C.P.;Su, Y.N.;Chen, Y.Y.;Su, J.W.;Chern, S.R.;Chen, Y.T.;Chen, W.L.;Chen, L.F.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2011-12-01 |
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| Mosaic ring chromosome 21, monosomy 21, and isodicentric ringchromosome 21: Prenatal diagnosis, molecular cytogenetic characterization,and association with 2-Mb deletion of 21q21.1-q21.2 and 5-Mb deletion of21q22.3 |
Chen, C.P.;Lin, Y.H.;Chou, S.Y.;Su, Y.N.;Chern, S.R.;Chen, Y.T.;Town, D.D.;Chen, W.L.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-03-01 |
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| Trisomy 7 mosaicism at amniocentesis: Interphase FISH, QF-PCR, and aCGHanalyses on uncultured amniocytes for rapid distinguishing of truemosaicism from pseudomosaicism |
Chen, C.P.;Huang, H.K.;Su, Y.N.;Chern, S.R.;Su, J.W.;Lee, C.C.;Town, D.D.;Chen, W.L.;Chen, Y.T.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-03-01 |
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| Rapid aneuploidy diagnosis of partial trisomy 7q (7q34->qter) andpartial monosomy 10q (10q26.12->qter) by array comparative genomichybridization using uncultured amniocytes |
Chen, C.P.;Lin, S.P.;Su, Y.N.;Tsai, F.J.;Wu, P.C.;Town, D.D.;Chen, L.F.;Lee, M.S.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-03-01 |
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| Rapid aneuploidy diagnosis by multiplex ligation-dependent probeamplification using uncultured amniocytes in pregnancy with major fetalstructural abnormalities |
Chen, C.P.;Su, Y.N.;Chang, C.L.;Chen, Y.Y.;Su, J.W.;Chern, S.R.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-03-01 |
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| Prenatal diagnosis of partial trisomy 16p (16p12.2->pter) and partialmonosomy 22q (22q13.31->qter) associated with increased nuchal translucencyand abnormal maternal serum biochemistry in the first trimester |
Chen, C.P.;Ko, T.M.;Su, Y.N.;Hsu, C.Y.;Chen, Y.Y.;Su, J.W.;Chen, W.L.;Pan, C.W.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-03-01 |
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| Unexplained shortening of the long bones in the third trimester as theonly prenatal feature in a male fetus with 45,X/46,X,r(Y) mosaicism |
Chen, C.P.;Su, Y.N.;Chen, M.;Tsai, F.J.;Chen, Y.Y.;Ma, G.C.;Chang, S.P.;Su, J.W.;Chen, Y.T.;Chen, W.L.;Chen, L.F.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-03-01 |
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| Inv dup del(10q): Identification by fluorescence in situ hybridizationand array comparative genomic hybridization in a fetus with two concurrentchromosomal rearrangements |
Chen, C.P.;Chen, M.;Su, Y.N.;Huang, J.P.;Ma, G.C.;Chang, S.P.;Chern, S.R.;Chen, Y.T.;Su, J.W.;Lee, C.C.;Town, D.D.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-06-01 |
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| Intraperitoneal and intracardiac transfusion of recurrent fetalerythroblastosis due to anti-M alloimmunization with unfavorable outcome |
Lin, T.H.;Shih, J.C.;Lin, C.H.;Lin, S.Y.;Su, Y.N.;Lee, C.N.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-06-01 |
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| Prenatal diagnosis and molecular genetic analysis of shortrib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimesterfetus with a homozygous splice site mutation in intron 4 in the NEK1 gene |
Chen, C.P.;Chern, S.R.;Chang, T.Y.;Su, Y.N.;Chen, Y.Y.;Su, J.W.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-06-01 |
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| Osteogenesis imperfecta type IV: Prenatal molecular diagnosis andgenetic counseling in a pregnancy carried to full term with favorableoutcome |
Chen, C.P.;Lin, S.P.;Su, Y.N.;Chern, S.R.;Lin, M.H.;Su, J.W.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-06-01 |
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| Osteogenesis imperfecta type I: Second-trimester diagnosis andincidental identification of a dominant COL1A1 deletion mutation in thepaucisymptomatic father |
Chen, C.P.;Su, Y.N.;Chang, T.Y.;Chern, S.R.;Chen, C.Y.;Su, J.W.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-06-01 |
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| Uncomplicated vaginal delivery in two consecutive pregnancies carriedto term in a woman with osteogenesis imperfecta type I and bisphosphonatetreatment before conception |
Chen, C.P.;Lin, S.P.;Su, Y.N.;Huang, J.P.;Chern, S.R.;Su, J.W.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-06-01 |
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| Identification of a deletion mutation in the short flanking repeatregion of exon 44 of the COL1A1 gene in a fetus with osteogenesisimperfecta type II |
Chen, C.P.;Su, Y.N.;Chang, T.Y.;Chern, S.R.;Su, J.W.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-06-01 |
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| Identification of a COL1A2 mutation with a deletion spanning coding andintronic sequence in exon 19 and intron 19 in a fetus with osteogenesisimperfecta type II |
Chen, C.P.;Su, Y.N.;Hung, F.Y.;Chern, S.R.;Su, J.W.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-06-01 |
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| Osteogenesis imperfecta type II: Prenatal diagnosis and associationwith increased nuchal translucency and hypoechogenicity of the cranium |
Chen, C.P.;Su, Y.N.;Chang, T.Y.;Huang, M.C.;Pan, C.H.;Chern, S.R.;Su, J.W.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-06-01 |
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| Rapid positive confirmation of mosaicism for a small supernumerarymarker chromosome as r(8) by interphase fluorescence in situ hybridization,quantitative fluorescent polymerase chain reaction, and array comparativegenomic hybridization on uncultured amniocytes in a pregnancy with fetalpyelectasis |
Chen, C.P.;Chang, S.D.;Su, Y.N.;Chen, M.;Chern, S.R.;Su, J.W.;Chen, Y.T.;Chen, W.L.;Pan, C.W.;Lee, M.S.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-09-01 |
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| Pure partial monosomy 3p (3p25.3 -> pter): Prenatal diagnosis and arraycomparative genomic hybridization characterization |
Chen, C.P.;Su, Y.N.;Chen, C.Y.;Su, J.W.;Chern, S.R.;Town, D.D.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-09-01 |
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| Usefulness of interphase FISH on uncultured amniocytes for rapidconfirmation of low-level trisomy 7 mosaicism in a pregnancy with fetalintrauterine growth restriction and microcephaly |
Chen, C.P.;Su, Y.N.;Chen, Y.Y.;Chern, S.R.;Su, J.W.;Chen, Y.T.;Town, D.D.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-09-01 |
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| Rapid positive confirmation of trisomy 21 mosaicism at amniocentesis byinterphase FISH, QF-PCR and aCGH on uncultured amniocytes |
Chen, C.P.;Chang, S.D.;Chueh, H.Y.;Su, Y.N.;Su, J.W.;Chern, S.R.;Chen, Y.T.;Lee, C.C.;Town, D.D.;Chen, W.L.;Chen, L.F.;Lee, M.S.;Pan, C.W.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-09-01 |
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| Rapid aneuploidy diagnosis of trisomy 18 by array comparative genomichybridization using uncultured amniocytes in a pregnancy with fetalarachnoid cyst detected in late second trimester |
Chen, C.P.;Su, Y.N.;Weng, S.L.;Tsai, F.J.;Chen, C.Y.;Liu, Y.P.;Chern, S.R.;Chen, W.L.;Wu, P.C.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-09-01 |
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| Prenatal diagnosis and array comparative genomic hybridizationcharacterization of a de novo X;Y translocation |
Chen, C.P.;Su, Y.N.;Chern, S.R.;Su, J.W.;Chen, Y.T.;Lee, C.C.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-09-01 |
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| Mosaic trisomy 2 at amniocentesis: Prenatal diagnosis and moleculargenetic analysis |
Chen, C.P.;Su, Y.N.;Chern, S.R.;Chen, Y.T.;Wu, P.S.;Su, J.W.;Pan, C.W.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-12-01 |
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| Prenatal diagnosis of mosaic tetrasomy 18p |
Chen, C.P.;Ko, T.M.;Su, Y.N.;Chern, S.R.;Su, J.W.;Chen, Y.T.;Town, D.D.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-12-01 |
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| Prenatal diagnosis of trisomy 8 mosaicism |
Chen, C.P.;Su, Y.N.;Chern, S.R.;Chen, Y.T.;Su, J.W.;Pan, C.W.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-12-01 |
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| Prenatal diagnosis of an interstitial deletion of 10q (10q11.21 ->q21.1): Array comparative genomic hybridization characterization andliterature review |
Chen, C.P.;Su, Y.N.;Chern, S.R.;Wu, P.S.;Su, J.W.;Town, D.D.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2012-12-01 |
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| Mosaic trisomy 12 at amniocentesis: Prenatal diagnosis and moleculargenetic analysis |
Chen, C.P.;Su, Y.N.;Su, J.W.;Chern, S.R.;Chen, Y.T.;Chen, L.F.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2013-03-01 |
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| Discrepancy in the trisomy mosaicism level between cultured amniocytesand uncultured amniocytes in prenatally detected mosaic trisomy 20 |
Chen, C.P.;Chang, S.D.;Chueh, H.Y.;Su, Y.N.;Chern, S.R.;Su, J.W.;Chen, Y.T.;Chen, W.L.;Lee, M.S.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2013-03-01 |
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| Prenatal diagnosis and molecular cytogenetic characterization of aproximal deletion of 22q (22q11.2->q11.21) |
Chen, C.P.;Ko, T.M.;Su, Y.N.;Su, J.W.;Chen, Y.T.;Lee, C.C.;Chen, L.F.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2013-03-01 |
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| Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu inexon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IVand favorable outcome |
Chen, C.P.;Lin, S.P.;Su, Y.N.;Chern, S.R.;Su, J.W.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2013-03-01 |
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| Placental mesenchymal dysplasia associated with antepartum hemorrhage,subchorionic hematoma, and intrauterine growth restriction |
Chen, C.P.;Hsu, C.Y.;Su, Y.N.;Wang, T.Y.;Chern, S.R.;Su, J.W.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2013-03-01 |
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| Prenatal diagnosis of recurrent autosomal dominant osteogenesisimperfecta associated with unaffected parents and paternal gonadal mosaicism |
Chen, C.P.;Lin, S.P.;Su, Y.N.;Chern, S.R.;Su, J.W.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2013-03-01 |
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| Prenatal diagnosis and molecular cytogenetic characterization of a denovo interstitial duplication of 11q (11q22.3->q23.3) associated withabnormal maternal serum biochemistry |
Chen, C.P.;Su, Y.N.;Lin, S.P.;Chern, S.R.;Su, J.W.;Chen, Y.T.;Lee, M.S.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2013-03-01 |
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| Prenatal diagnosis and molecular cytogenetic characterization of a denovo interstitial duplication of 14q (14q31.3->q32.12) associated withabnormal maternal serum biochemistry |
Chen, C.P.;Hwang, K.S.;Su, H.Y.;Lin, S.P.;Su, Y.N.;Chern, S.R.;Su, J.W.;Chen, Y.T.;Chen, W.L.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2013-03-01 |
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| Lethal fetal stroke in utero |
Lin, T.H.;Lee, C.N.;Su, Y.N.; |
Taiwanese Journal of Obstetrics and Gynecology |
2013-06-01 |
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| Prenatal diagnosis of proximal femoral focal deficiency: A case reportand literature review |
Lin, T.H.;Chung, C.H.;Shih, J.C.;Lin, C.H.;Lee, C.N.;Su, Y.N.; |
Taiwanese Journal of Obstetrics and Gynecology |
2013-06-01 |
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| Rapid detection of de novo P253R mutation in FGFR2 using unculturedamniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst,and Apert syndrome |
Chen, C.P.;Su, Y.N.;Chang, T.Y.;Chern, S.R.;Chen, C.Y.;Su, J.W.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2013-06-01 |
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| Detection of maternal transmission of a splicing mutation in the TSC2gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimickingcongenital cystic adenomatoid malformation of the lung and cerebral tubersand awareness of a family history of maternal epilepsy |
Chen, C.P.;Chang, T.Y.;Guo, W.Y.;Su, Y.N.;Chen, Y.Y.;Chern, S.R.;Su, J.W.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2013-09-01 |
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| Detection of maternal transmission of a splicing mutation in the TSC2gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimickingcongenital cystic adenomatoid malformation of the lung and cerebral tubersand awareness of a family history of maternal epilepsy |
Chen, C.P.;Chang, T.Y.;Guo, W.Y.;Su, Y.N.;Chen, Y.Y.;Chern, S.R.;Su, J.W.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2013-09-01 |
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| Concordant myelomeningocele in dizygotic twins conceived byintracytoplasmic sperm injection, in vitro fertilization, and embryotransfer |
Chen, C.P.;Hwu, Y.M.;Chen, C.Y.;Su, Y.N.;Lin, T.H.;Kuo, Y.L.;Chern, S.R.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2013-12-01 |
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| Detection of a de novo Y278C mutation in FGFR3 in a pregnancy withsevere fetal hypochondroplasia: Prenatal diagnosis and literature review |
Chen, C.P.;Su, Y.N.;Lin, T.H.;Chang, T.Y.;Su, J.W.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2013-12-01 |
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| Detection of altered methylation status at 11p15.5 and 7q32 inplacental mesenchymal dysplasia |
Chen, C.P.;Su, Y.N.;Lin, M.H.;Wang, T.Y.;Chern, S.R.;Kuo, Y.L.;Chen, Y.T.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2014-03-01 |
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| Prenatal diagnosis of hypomethylation at KvDMR1 and Beckwith-Wiedemannsyndrome in a pregnancy conceived by intracytoplasmic sperm injection andin vitro fertilization and embryo transfer |
Chen, C.P.;Su, Y.N.;Chen, S.U.;Chang, T.Y.;Wu, P.C.;Chern, S.R.;Wu, P.S.;Kuo, Y.L.;Wang, W.; |
Taiwanese Journal of Obstetrics and Gynecology |
2014-03-01 |
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