UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 57

Sortiert nach

Mosaic trisomy 2 at amniocentesis: Prenatal diagnosis and molecular genetic analysis

Taiwanese journal of obstetrics & gynecology, 2012-12, Vol.51 (4), p.603-611

2012

Volltextzugriff (PDF)

Mosaic trisomy 12 at amniocentesis: Prenatal diagnosis and molecular genetic analysis

Taiwanese journal of obstetrics & gynecology, 2013-03, Vol.52 (1), p.97-105

2013

Volltextzugriff (PDF)

Prenatal diagnosis of mosaic trisomy 12 associated with congenital overgrowth

Taiwanese journal of obstetrics & gynecology, 2013-09, Vol.52 (3), p.454-456

2013

Volltextzugriff (PDF)

Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family

Taiwanese journal of obstetrics & gynecology, 2013-12, Vol.52 (4), p.551-557

2013

Volltextzugriff (PDF)

VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer

Taiwanese journal of obstetrics & gynecology, 2013-12, Vol.52 (4), p.575-579

2013

Volltextzugriff (PDF)

Prenatal diagnosis of mosaic trisomy 2 associated with abnormal maternal serum screening, oligohydramnios, intrauterine growth restriction, ventricular septal defect, preaxial polydactyly, and facial dysmorphism

Taiwanese journal of obstetrics & gynecology, 2013-09, Vol.52 (3), p.395-400

2013

Volltextzugriff (PDF)

Prenatal diagnosis of mosaic tetrasomy 18p

Taiwanese journal of obstetrics & gynecology, 2012-12, Vol.51 (4), p.625-629

2012

Volltextzugriff (PDF)

Detection of no isochromosome 20q by interphase fluorescent in situ hybridization on uncultured amniocytes in a pregnancy with mosaic isochromosome 20q in cultured amniocytes at amniocentesis

Taiwanese journal of obstetrics & gynecology, 2015-02, Vol.54 (1), p.58-61

2015

Volltextzugriff (PDF)

Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: Prenatal diagnosis and literature review

Taiwanese journal of obstetrics & gynecology, 2013-12, Vol.52 (4), p.580-585

2013

Volltextzugriff (PDF)

Prenatal diagnosis of trisomy 8 mosaicism

Taiwanese journal of obstetrics & gynecology, 2012-12, Vol.51 (4), p.666-668

2012

Volltextzugriff (PDF)

Pfeiffer syndrome with FGFR2 W290C mutation perinatally presenting extreme proptosis

Taiwanese journal of obstetrics & gynecology, 2013-12, Vol.52 (4), p.607-610

2013

Volltextzugriff (PDF)

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

Taiwanese journal of obstetrics & gynecology, 2012-06, Vol.51 (2), p.266-270

2012

Volltextzugriff (PDF)

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3→q23.3) associated with abnormal maternal serum biochemistry

Taiwanese journal of obstetrics & gynecology, 2013-03, Vol.52 (1), p.120-124

2013

Volltextzugriff (PDF)

Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family history of maternal epilepsy

Taiwanese journal of obstetrics & gynecology, 2013-09, Vol.52 (3), p.415-419

2013

Volltextzugriff (PDF)

Mosaic trisomy 14 at amniocentesis: Prenatal diagnosis and literature review

Taiwanese journal of obstetrics & gynecology, 2013-09, Vol.52 (3), p.446-449

2013

Volltextzugriff (PDF)

Application of interphase FISH to uncultured amniocytes for rapid confirmation of true trisomy 2 mosaicism in the case of suspected amniocyte mosaicism involving trisomy 2 in a single colony

Taiwanese journal of obstetrics & gynecology, 2013-06, Vol.52 (2), p.300-302

2013

Volltextzugriff (PDF)

First-trimester prenatal diagnosis of Ellis–van Creveld syndrome

Taiwanese journal of obstetrics & gynecology, 2012-12, Vol.51 (4), p.643-648

2012

Volltextzugriff (PDF)

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry

Taiwanese journal of obstetrics & gynecology, 2013-03, Vol.52 (1), p.125-128

2013

Volltextzugriff (PDF)

Female pseudohermaphroditism in a prenatally diagnosed cloacal malformation with hydronephrosis, dilated bladder, hydrometrocolpos, and oligohydramnios

Taiwanese journal of obstetrics & gynecology, 2013-12, Vol.52 (4), p.571-574

2013

Volltextzugriff (PDF)

Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism

Taiwanese journal of obstetrics & gynecology, 2013-03, Vol.52 (1), p.106-109

2013

Volltextzugriff (PDF)

Discordant anencephaly and Cantrell syndrome in monozygotic twins conceived by ICSI and IVF–ET

Taiwanese journal of obstetrics & gynecology, 2013-06, Vol.52 (2), p.297-299

2013

Volltextzugriff (PDF)

Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II

Taiwanese journal of obstetrics & gynecology, 2013-09, Vol.52 (3), p.420-425

2013

Volltextzugriff (PDF)

A 1.37-Mb 12p11.22–p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation

Taiwanese journal of obstetrics & gynecology, 2014-03, Vol.53 (1), p.74-78

2014

Volltextzugriff (PDF)

Pure partial monosomy 3p (3p25.3 → pter): Prenatal diagnosis and array comparative genomic hybridization characterization

Taiwanese journal of obstetrics & gynecology, 2012-09, Vol.51 (3), p.435-439

2012

Volltextzugriff (PDF)

Discrepancy in the trisomy mosaicism level between cultured amniocytes and uncultured amniocytes in prenatally detected mosaic trisomy 20

Taiwanese journal of obstetrics & gynecology, 2013-03, Vol.52 (1), p.145-146

2013

Volltextzugriff (PDF)

1 – 25 von 57

Suche als RSS-Feed

Aktive Filter

ThemaInternal Medicine

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(57)
Mit Volltextzugriff
(57)

Publikationsform

Artikel
(57)

Sprache

Englisch
(57)
Japanisch
(1)

Erscheinungsjahr

n.n

Thema

Obstetrics And Gynecology
(57)
Female
(55)
Humans
(55)
Life Sciences & Biomedicine
(55)
Obstetrics & Gynecology
(55)
Science & Technology
(55)
Pregnancy
(53)
Adult
(48)
Amniocentesis
(31)
Prenatal Diagnosis
(26)
Ultrasonography, Prenatal
(23)
Mosaicism
(18)
Comparative Genomic Hybridization
(17)
Male
(17)
Infant, Newborn
(16)
Karyotype
(14)
Trisomy - Diagnosis
(12)
In Situ Hybridization, Fluorescence
(11)
Fetal Diseases - Genetics
(9)

14 weitere anzeigen...

Weniger anzeigen...

Kollektion

IngentaConnect Journals
(57)
EZB Electronic Journals Library
(57)
Ingenta Connect
(57)
Elsevier ScienceDirect Journals Complete
(57)
MEDLINE
(55)

Zeitschrift / Serie

Menü

Weitere Dienste

Einstellungen

Mosaic trisomy 2 at amniocentesis: Prenatal diagnosis and molecular genetic analysis

Mosaic trisomy 12 at amniocentesis: Prenatal diagnosis and molecular genetic analysis

Prenatal diagnosis of mosaic trisomy 12 associated with congenital overgrowth

Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family

VACTERL association with hydrocephalus in a fetus conceived by in vitro fertilization and embryo transfer

Prenatal diagnosis of mosaic trisomy 2 associated with abnormal maternal serum screening, oligohydramnios, intrauterine growth restriction, ventricular septal defect, preaxial polydactyly, and facial dysmorphism

Prenatal diagnosis of mosaic tetrasomy 18p

Detection of no isochromosome 20q by interphase fluorescent in situ hybridization on uncultured amniocytes in a pregnancy with mosaic isochromosome 20q in cultured amniocytes at amniocentesis

Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: Prenatal diagnosis and literature review

Prenatal diagnosis of trisomy 8 mosaicism

Pfeiffer syndrome with FGFR2 W290C mutation perinatally presenting extreme proptosis

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

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 11q (11q22.3→q23.3) associated with abnormal maternal serum biochemistry

Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family history of maternal epilepsy

Mosaic trisomy 14 at amniocentesis: Prenatal diagnosis and literature review

Application of interphase FISH to uncultured amniocytes for rapid confirmation of true trisomy 2 mosaicism in the case of suspected amniocyte mosaicism involving trisomy 2 in a single colony

First-trimester prenatal diagnosis of Ellis–van Creveld syndrome

Prenatal diagnosis and molecular cytogenetic characterization of a de novo interstitial duplication of 14q (14q31.3→q32.12) associated with abnormal maternal serum biochemistry

Female pseudohermaphroditism in a prenatally diagnosed cloacal malformation with hydronephrosis, dilated bladder, hydrometrocolpos, and oligohydramnios

Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism

Discordant anencephaly and Cantrell syndrome in monozygotic twins conceived by ICSI and IVF–ET

Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II

A 1.37-Mb 12p11.22–p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation

Pure partial monosomy 3p (3p25.3 → pter): Prenatal diagnosis and array comparative genomic hybridization characterization

Discrepancy in the trisomy mosaicism level between cultured amniocytes and uncultured amniocytes in prenatally detected mosaic trisomy 20

Aktive Filter

Suchergebnisse filtern