UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

PAX2 mutations in fetal renal hypodysplasia

American journal of medical genetics. Part A, 2010-04, Vol.152A (4), p.830-835

2010

Volltextzugriff (PDF)

Functional disomy of the Xq28 chromosome region

European journal of human genetics : EJHG, 2005-05, Vol.13 (5), p.579-585

2005

Volltextzugriff (PDF)

Reproductive genetic counselling in non‐mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review

Human reproduction (Oxford), 2003-02, Vol.18 (2), p.271-275

2003

Volltextzugriff (PDF)

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

Prenatal diagnosis, 2006-12, Vol.26 (13), p.1201-1205

2006

Volltextzugriff (PDF)

Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature

Prenatal diagnosis, 2006-03, Vol.26 (3), p.231-238

2006

Volltextzugriff (PDF)

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia

Prenatal diagnosis, 2008-01, Vol.28 (1), p.69-71

2008

Volltextzugriff (PDF)

Amniotic fluid digestive enzymes: Diagnostic value in fetal gastrointestinal obstructions

Prenatal diagnosis, 1994-10, Vol.14 (10), p.973-979

1994

Volltextzugriff (PDF)

Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum

Prenatal diagnosis, 2004-04, Vol.24 (4), p.298-301

2004

Volltextzugriff (PDF)

CGH analysis in a cohort of 17 chromosomally normal fetuses with an increased nuchal translucency

Prenatal diagnosis, 2003-12, Vol.23 (12), p.1017-1018

2003

Volltextzugriff (PDF)

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

European journal of human genetics : EJHG, 2010-03, Vol.18 (3), p.285-290

2010

Volltextzugriff (PDF)

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis

European journal of human genetics : EJHG, 2009-08, Vol.17 (8), p.1019-1023

2009

Volltextzugriff (PDF)

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

European journal of human genetics : EJHG, 2010-02, Vol.18 (2), p.227-232

2010

Volltextzugriff (PDF)

Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features

Prenatal diagnosis, 2000-06, Vol.20 (6), p.511-515

2000

Volltextzugriff (PDF)

Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2

American journal of medical genetics. Part A, 2007-02, Vol.143A (3), p.219-228

2007

Volltextzugriff (PDF)

Anti-Müllerian hormone in early human development

Early human development, 1993-06, Vol.33 (2), p.91-99

1993

Volltextzugriff (PDF)

Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy

Journal of medical genetics, 2001-12, Vol.38 (12), p.850-852

2001

Volltextzugriff (PDF)

Trisomy 15 in chorionic villi and Prader-Willi syndrome at birth

Prenatal diagnosis, 1993-04, Vol.13 (4), p.307-308

1993

Volltextzugriff (PDF)

Prenatal Diagnosis in France

European journal of human genetics : EJHG, 1997-01, Vol.5 (Suppl 1), p.26-31

1997

Volltextzugriff (PDF)

Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome

American journal of medical genetics, 1997-03, Vol.69 (2), p.166-168

1997

Volltextzugriff (PDF)

Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis

Human mutation, 1998, Vol.12 (4), p.259-266

1998

Volltextzugriff (PDF)

Identification of novelL1CAM mutations using fluorescence-assisted mismatch analysis

Human mutation, 1998, Vol.12 (4), p.259-266

1998

Volltextzugriff (PDF)

Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter

Journal of medical genetics, 1993-06, Vol.30 (6), p.521-524

1993

Volltextzugriff (PDF)

Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q

American journal of medical genetics, 1998-02, Vol.76 (1), p.51-57

1998

Volltextzugriff (PDF)

Anomalies chromosomiques

EMC - Traité de médecine AKOS, 2006-01, Vol.1 (1), p.1-5

2006

Volltextzugriff (PDF)

Problems posed by genetic diseases: trisomy 21

La revue du praticien, 2006-06, Vol.56 (12), p.1357

2006

Volltextzugriff (PDF)

1 – 25 von 25

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(21)
Mit Volltextzugriff
(23)

Publikationsform

Artikel
(24)
magazinearticle
(1)

Sprache

Englisch
(24)
Französisch
(1)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

PAX2 mutations in fetal renal hypodysplasia

Functional disomy of the Xq28 chromosome region

Reproductive genetic counselling in non‐mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review

Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia

Amniotic fluid digestive enzymes: Diagnostic value in fetal gastrointestinal obstructions

Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum

CGH analysis in a cohort of 17 chromosomally normal fetuses with an increased nuchal translucency

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features

Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion of FGF10 and FGFR2

Anti-Müllerian hormone in early human development

Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy

Trisomy 15 in chorionic villi and Prader-Willi syndrome at birth

Prenatal Diagnosis in France

Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome

Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis

Identification of novelL1CAM mutations using fluorescence-assisted mismatch analysis

Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter

Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q

Anomalies chromosomiques

Problems posed by genetic diseases: trisomy 21

Suchergebnisse filtern