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...

Bi‐allelic IARS mutations in a child with intra‐uterine growth retardation, neonatal cholestasis, and mild developmental delay

Clinical genetics, 2017-06, Vol.91 (6), p.913-917

2017

Volltextzugriff (PDF)

Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins

American journal of medical genetics, 2004-12, Vol.131A (3), p.287-298

2004

Volltextzugriff (PDF)

Genetics of population isolates

Clinical genetics, 2002-04, Vol.61 (4), p.233-247

2002

Volltextzugriff (PDF)

Genetics of ventral forebrain development and holoprosencephaly

Current Opinion in Genetics & Development, 2000-06, Vol.10 (3), p.262-269

2000

Volltextzugriff (PDF)

Linkage and association analysis of ADHD endophenotypes in extended and multigenerational pedigrees from a genetic isolate

Molecular psychiatry, 2016-10, Vol.21 (10), p.1434-1440

2016

Volltextzugriff (PDF)

Contribution of LPHN3 to the genetic susceptibility to ADHD in adulthood: a replication study

Genes, brain and behavior, 2011-03, Vol.10 (2), p.149-157

2011

Volltextzugriff (PDF)

A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature

BMC medical genomics, 2018-05, Vol.11 (1), p.44-44, Article 44

2018

Volltextzugriff (PDF)

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

Journal of medical genetics, 2006-02, Vol.43 (2), p.148-152

2006

Volltextzugriff (PDF)

A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD

Molecular psychiatry, 2012-07, Vol.17 (7), p.741-747

2012

Volltextzugriff (PDF)

Loss-of-Function Mutations in Growth Differentiation Factor-1 ( GDF1) Are Associated with Congenital Heart Defects in Humans

American journal of human genetics, 2007-11, Vol.81 (5), p.987-994

2007

Volltextzugriff (PDF)

Parental X chromosome inheritance and variable gene expression in turner syndrome

Fertility and sterility, 2014-09, Vol.102 (3), p.e94-e94

2014

Volltextzugriff (PDF)

Variable gene expression in turner syndrome patients with bicuspid aortic valve

Fertility and sterility, 2014-09, Vol.102 (3), p.e253-e254

2014

Volltextzugriff (PDF)

Whole exome sequencing in monozygotic twins discordant for premature ovarian insufficiency

Fertility and sterility, 2015-09, Vol.104 (3), p.e111-e111

2015

Volltextzugriff (PDF)

Holoprosencephaly: A paradigm for the complex genetics of brain development

Journal of inherited metabolic disease, 1998-08, Vol.21 (5), p.481-497

1998

Volltextzugriff (PDF)

Phenotypic diversity amongst patients with an isodicentric y chromosome

Fertility and sterility, 2013-09, Vol.100 (3), p.S445-S445

2013

Volltextzugriff (PDF)

The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly

Human molecular genetics, 1999-12, Vol.8 (13), p.2479-2488

1999

Volltextzugriff (PDF)

A two-locus genetic interaction between LPHN3 and 11q predicts ADHD severity and long-term outcome

Translational psychiatry, 2011-07, Vol.1 (7), p.e17-e17

2011

Volltextzugriff (PDF)

A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans

Molecular syndromology, 2010-01, Vol.1 (2), p.59-66

2010

Volltextzugriff (PDF)

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

Nature genetics, 1996-10, Vol.14 (2), p.174-176

1996

Volltextzugriff (PDF)

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

Nature genetics, 1996-11, Vol.14 (3), p.353-356

1996

Volltextzugriff (PDF)

Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly

Human molecular genetics, 1997-10, Vol.6 (11), p.1847-1853

1997

Volltextzugriff (PDF)

Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts

Journal of medical genetics, 2007-05, Vol.44 (5), p.298-305

2007

Volltextzugriff (PDF)

Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome

Journal of medical genetics, 2005-02, Vol.42 (2), p.e11-e11

2005

Volltextzugriff (PDF)

1 – 25 von 280

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(233)
Mit Volltextzugriff
(266)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication

Bi‐allelic IARS mutations in a child with intra‐uterine growth retardation, neonatal cholestasis, and mild developmental delay

Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins

Genetics of population isolates

Genetics of ventral forebrain development and holoprosencephaly

Linkage and association analysis of ADHD endophenotypes in extended and multigenerational pedigrees from a genetic isolate

Contribution of LPHN3 to the genetic susceptibility to ADHD in adulthood: a replication study

A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD

Loss-of-Function Mutations in Growth Differentiation Factor-1 ( GDF1) Are Associated with Congenital Heart Defects in Humans

Parental X chromosome inheritance and variable gene expression in turner syndrome

Variable gene expression in turner syndrome patients with bicuspid aortic valve

Whole exome sequencing in monozygotic twins discordant for premature ovarian insufficiency

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

Holoprosencephaly: A paradigm for the complex genetics of brain development

Phenotypic diversity amongst patients with an isodicentric y chromosome

The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly

A two-locus genetic interaction between LPHN3 and 11q predicts ADHD severity and long-term outcome

A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

Mutations in the C-Terminal Domain of Sonic Hedgehog Cause Holoprosencephaly

Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts

Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome

Suchergebnisse filtern