UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 57

Sortiert nach

Role for CXCR2 and CXCL1 on glia in multiple sclerosis

Glia, 2006-01, Vol.53 (1), p.24-31

2006

Volltextzugriff (PDF)

Induction of myocardial insulin-like growth factor-I gene expression in left ventricular hypertrophy

Circulation (New York, N.Y.), 1994-02, Vol.89 (2), p.799-809

1994

Volltextzugriff (PDF)

Stroke in young adults and children

Current neurology and neuroscience reports, 2001, Vol.1 (1), p.54-66

2001

Volltextzugriff (PDF)

Chapter 78 - Treatment of Multiple Sclerosis

Neurology and Clinical Neuroscience, p.1045-1055

Volltextzugriff (PDF)

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

Nature genetics, 2014-08, Vol.46 (8), p.812-814

2014

Volltextzugriff (PDF)

The Ethics of Armed Conflict : A Cosmopolitan Just War Theory

Lango, John W

1, 2014

Volltextzugriff (PDF)

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

American journal of human genetics, 2019-05, Vol.104 (5), p.985-989

2019

Volltextzugriff (PDF)

GATA6 haploinsufficiency causes pancreatic agenesis in humans

Nature genetics, 2012-01, Vol.44 (1), p.20-22

2012

Volltextzugriff (PDF)

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus

European journal of human genetics : EJHG, 2015-12, Vol.23 (12), p.1744-1748

2015

Volltextzugriff (PDF)

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

Journal of allergy and clinical immunology, 2018-10, Vol.142 (4), p.1285-1296

2018

Volltextzugriff (PDF)

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

Nature genetics, 2014-01, Vol.46 (1), p.61-64

2014

Volltextzugriff (PDF)

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

European journal of human genetics : EJHG, 2015-03, Vol.23 (3), p.401-404

2015

Volltextzugriff (PDF)

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

Nature genetics, 2013-08, Vol.45 (8), p.947-950

2013

Volltextzugriff (PDF)

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

American journal of human genetics, 2017-01, Vol.100 (1), p.75-90

2017

Volltextzugriff (PDF)

SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B

Clinical endocrinology (Oxford), 2016-05, Vol.84 (5), p.715-719

2016

Volltextzugriff (PDF)

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

European journal of human genetics : EJHG, 2014-06, Vol.23 (3), p.401-404

2014

Volltextzugriff (PDF)

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

Intensive care medicine, 2019-05, Vol.45 (5), p.627-636

2019

Volltextzugriff (PDF)

Germline selection shapes human mitochondrial DNA diversity

Science (American Association for the Advancement of Science), 2019-05, Vol.364 (6442)

2019

Volltextzugriff (PDF)

Common variants in WFS1 confer risk of type 2 diabetes

Nature genetics, 2007-08, Vol.39 (8), p.951-953

2007

Volltextzugriff (PDF)

Practical challenges for functional validation of STAT1 gain of function genetic variants

Clinical and experimental immunology, 2023-04, Vol.212 (2), p.166-169

2023

Volltextzugriff (PDF)

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Journal of allergy and clinical immunology, 2020-10, Vol.146 (4), p.901-911

2020

Volltextzugriff (PDF)

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans

Journal of medical genetics, 2014-04, Vol.51 (4), p.264-267

2014

Volltextzugriff (PDF)

1 – 25 von 57

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(51)
Mit Volltextzugriff
(47)

Publikationsform

Sprache

Englisch
(56)
Japanisch
(14)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Role for CXCR2 and CXCL1 on glia in multiple sclerosis

Induction of myocardial insulin-like growth factor-I gene expression in left ventricular hypertrophy

Stroke in young adults and children

Chapter 78 - Treatment of Multiple Sclerosis

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

The Ethics of Armed Conflict : A Cosmopolitan Just War Theory

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

GATA6 haploinsufficiency causes pancreatic agenesis in humans

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

Circuits between infected macrophages and T cells in SARS-CoV-2 pneumonia

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

The lung microenvironment shapes a dysfunctional response of alveolar macrophages in aging

Germline selection shapes human mitochondrial DNA diversity

Common variants in WFS1 confer risk of type 2 diabetes

Practical challenges for functional validation of STAT1 gain of function genetic variants

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans

Suchergebnisse filtern