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...

From Disease Description and Gene Discovery to Functional Cell Pathway: A Decade-Long Journey for TMCO1

Frontiers in genetics, 2021-05, Vol.12, p.652400-652400

2021

Volltextzugriff (PDF)

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

Science (American Association for the Advancement of Science), 2011-04, Vol.332 (6026), p.238-240

2011

Volltextzugriff (PDF)

A new liquid chromatography/tandem mass spectrometry method for quantification of gangliosides in human plasma

Analytical biochemistry, 2014-06, Vol.455, p.26-34

2014

Volltextzugriff (PDF)

Mechanisms of Huperzine a as an Active Component of Traditional Chinese Medicine for Preventing and Treating Alzheimer's Disease

International Journal of Gerontology, 2019-09, Vol.13 (3), p.191-195

2019

Volltextzugriff (PDF)

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke

Proceedings of the National Academy of Sciences - PNAS, 2011-03, Vol.108 (13), p.5372-5377

2011

Volltextzugriff (PDF)

Characterization of a novel variant in KCNJ16, encoding Kir5.1 channel

Physiological reports, 2024-10, Vol.12 (20), p.e70083-n/a

2024

Volltextzugriff (PDF)

Genetic variations in NLRP3 and NLRP12 genes in adult-onset patients with autoinflammatory diseases: a comparative study

Frontiers in immunology, 2023, Vol.14, p.1321370

2023

Volltextzugriff (PDF)

Subclinical echocardiographic abnormalities in phenotype-negative carriers of myosin-binding protein C3 gene mutation for hypertrophic cardiomyopathy

The American heart journal, 2011-08, Vol.162 (2), p.262-267.e3

2011

Volltextzugriff (PDF)

Dopa-Responsive Dystonia: A Male Patient Inherited a Novel GCH1 Deletion from an Asymptomatic Mother

Journal Of Movement Disorders, 2020, 13(2), , pp.150-153

2020

Volltextzugriff (PDF)

Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation

Proceedings of the National Academy of Sciences - PNAS, 2010-01, Vol.107 (1), p.258-263

2010

Volltextzugriff (PDF)

PRL-3 Expression in Metastatic Cancers

Clinical cancer research, 2003-11, Vol.9 (15), p.5607-5615

2003

Volltextzugriff (PDF)

Congenital Glucose–Galactose Malabsorption: A Case Report

Journal of pediatric health care, 2017-07, Vol.31 (4), p.506-510

2017

Volltextzugriff (PDF)

Reply to du Moulin et al.: Cerebral vasculopathy is a common hallmark in individuals with SAMHD1 mutations

Proceedings of the National Academy of Sciences - PNAS, 2011-06, Vol.108 (26), p.E233-E233

2011

Volltextzugriff (PDF)

Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy

American journal of medical genetics. Part A, 2007-11, Vol.143A (22), p.2662-2667

2007

Volltextzugriff (PDF)

Ectopia lentis associated with a 20-base deletion in the ADAMTSL4 gene in the Old Order Amish population

Ophthalmic genetics, 2024-10, p.1-6

2024

Volltextzugriff (PDF)

Quantification of monosialogangliosides in human plasma through chemical derivatization for signal enhancement in LC–ESI-MS

Analytica chimica acta, 2016-07, Vol.929, p.31-38

2016

Volltextzugriff (PDF)

Dopa-Responsive Dystonia: A Male Patient Inherited a Novel Deletion from an Asymptomatic Mother

Journal of movement disorders, 2020-05, Vol.13 (2), p.150-153

2020

Volltextzugriff (PDF)

Colon cancer secreted protein-2 (CCSP-2), a novel candidate serological marker of colon neoplasia

Oncogene, 2005-01, Vol.24 (4), p.724-731

2005

Volltextzugriff (PDF)

Tissue-Biased Expansion of DNMT3A-Mutant Clones in a Mosaic Individual Is Associated with Conserved Epigenetic Erosion

Cell stem cell, 2020-08, Vol.27 (2), p.326-335.e4

2020

Volltextzugriff (PDF)

Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity

American journal of human genetics, 2022-03, Vol.109 (3), p.518-532

2022

Volltextzugriff (PDF)

Induction of KIAA1199/CEMIP is associated with colon cancer phenotype and poor patient survival

Oncotarget, 2015-10, Vol.6 (31), p.30500-30515

2015

Volltextzugriff (PDF)

A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder

Human mutation, 2012-12, Vol.33 (12), p.1639-1646

2012

Volltextzugriff (PDF)

Characterization of a novel variant in KCNJ16, encoding K ir 5.1 channel

Physiological reports, 2024-10, Vol.12 (20), p.e70083

2024

Volltextzugriff (PDF)

Mutations in ELANE and COH1 (VPS13B) Genes Cause Severe Neutropenia in a Patient with Cohen Syndrome

Journal of clinical & cellular immunology, 2015, Vol.6 (6)

2015

Volltextzugriff (PDF)

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

Brain (London, England : 1878), 2015-08, Vol.138 (Pt 8), p.2173-2190

2015

Volltextzugriff (PDF)

1 – 25 von 208

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(192)
Mit Volltextzugriff
(175)

Publikationsform

Sprache

Englisch
(201)
Chinesisch
(12)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(3)
... seit 90 Tagen
(5)

Menü

Weitere Dienste

Einstellungen

From Disease Description and Gene Discovery to Functional Cell Pathway: A Decade-Long Journey for TMCO1

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

A new liquid chromatography/tandem mass spectrometry method for quantification of gangliosides in human plasma

Mechanisms of Huperzine a as an Active Component of Traditional Chinese Medicine for Preventing and Treating Alzheimer's Disease

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke

Characterization of a novel variant in KCNJ16, encoding Kir5.1 channel

Genetic variations in NLRP3 and NLRP12 genes in adult-onset patients with autoinflammatory diseases: a comparative study

Subclinical echocardiographic abnormalities in phenotype-negative carriers of myosin-binding protein C3 gene mutation for hypertrophic cardiomyopathy

Dopa-Responsive Dystonia: A Male Patient Inherited a Novel GCH1 Deletion from an Asymptomatic Mother

Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation

PRL-3 Expression in Metastatic Cancers

Congenital Glucose–Galactose Malabsorption: A Case Report

Reply to du Moulin et al.: Cerebral vasculopathy is a common hallmark in individuals with SAMHD1 mutations

Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy

Ectopia lentis associated with a 20-base deletion in the ADAMTSL4 gene in the Old Order Amish population

Quantification of monosialogangliosides in human plasma through chemical derivatization for signal enhancement in LC–ESI-MS

Dopa-Responsive Dystonia: A Male Patient Inherited a Novel Deletion from an Asymptomatic Mother

Colon cancer secreted protein-2 (CCSP-2), a novel candidate serological marker of colon neoplasia

Tissue-Biased Expansion of DNMT3A-Mutant Clones in a Mosaic Individual Is Associated with Conserved Epigenetic Erosion

Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity

Induction of KIAA1199/CEMIP is associated with colon cancer phenotype and poor patient survival

A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder

Characterization of a novel variant in KCNJ16, encoding K ir 5.1 channel

Mutations in ELANE and COH1 (VPS13B) Genes Cause Severe Neutropenia in a Patient with Cohen Syndrome

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

Suchergebnisse filtern