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...

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

American journal of human genetics, 2018-02, Vol.102 (2), p.309-320

2018

Volltextzugriff (PDF)

Subgroup-Specific Prognostic Implications of TP53 Mutation in Medulloblastoma

Journal of clinical oncology, 2013-08, Vol.31 (23), p.2927-2935

2013

Volltextzugriff (PDF)

De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy

American journal of human genetics, 2021-01, Vol.108 (1), p.186-193

2021

Volltextzugriff (PDF)

TP53 Alterations Determine Clinical Subgroups and Survival of Patients With Choroid Plexus Tumors

Journal of clinical oncology, 2010-04, Vol.28 (12), p.1995-2001

2010

Volltextzugriff (PDF)

Recurrent Focal Copy-Number Changes and Loss of Heterozygosity Implicate Two Noncoding RNAs and One Tumor Suppressor Gene at Chromosome 3q13.31 in Osteosarcoma

Cancer research (Chicago, Ill.), 2010, Vol.70 (1), p.160-171

2010

Volltextzugriff (PDF)

Universal Poor Survival in Children With Medulloblastoma Harboring Somatic TP53 Mutations

Journal of clinical oncology, 2010-03, Vol.28 (8), p.1345-1350

2010

Volltextzugriff (PDF)

PreBIND and Textomy--mining the biomedical literature for protein-protein interactions using a support vector machine

BMC bioinformatics, 2003-03, Vol.4 (1), p.11-11, Article 11

2003

Volltextzugriff (PDF)

Monoallelic Expression Determines Oncogenic Progression and Outcome in Benign and Malignant Brain Tumors

Cancer research (Chicago, Ill.), 2012-02, Vol.72 (3), p.636-644

2012

Volltextzugriff (PDF)

Structural Basis for Autoinhibition of the EphB2 Receptor Tyrosine Kinase by the Unphosphorylated Juxtamembrane Region

Cell, 2001-09, Vol.106 (6), p.745-757

2001

Volltextzugriff (PDF)

Paternal isodisomy of chromosome 2 as a cause of long chain 3‐hydroxyacyl‐CoA dehydrogenase (LCHAD) deficiency

American journal of medical genetics. Part A, 2010-07, Vol.152A (7), p.1808-1811

2010

Volltextzugriff (PDF)

Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation

Muscle & nerve, 2012-05, Vol.45 (5), p.752-755

2012

Volltextzugriff (PDF)

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification

American journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.2924-2930

2007

Volltextzugriff (PDF)

Arrhythmogenic Dilated Cardiomyopathy Due to a Novel Mutation in the Desmoplakin Gene

Indian journal of pediatrics, 2011-07, Vol.78 (7), p.866-869

2011

Volltextzugriff (PDF)

Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity

American journal of medical genetics. Part A, 2017-01, Vol.173 (1), p.213-216

2017

Volltextzugriff (PDF)

De Novo Mutations Causing Shwachman-Diamond Syndrome and a Founder Mutation in SBDS in the French Canadian Population

Journal of Investigative Genomics, 2014-07, Vol.1 (2)

Baskin, Berivan

2014

Volltextzugriff (PDF)

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

Cell, 2018-02, Vol.172 (5), p.924-936.e11

2018

Volltextzugriff (PDF)

De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy

American journal of human genetics, 2022-04, Vol.109 (4), p.759-763

2022

Volltextzugriff (PDF)

Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood

American journal of human genetics, 2017-08, Vol.101 (2), p.267-273

2017

Volltextzugriff (PDF)

Hepatocyte growth factor/scatter factor stimulates chemotaxis and growth of malignant mesothelioma cells through c‐met receptor

International journal of cancer, 1998-04, Vol.76 (2), p.240-249

1998

Volltextzugriff (PDF)

Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis

The lancet oncology, 2015-05, Vol.16 (5), p.569-582

2015

Volltextzugriff (PDF)

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability

Journal of medical genetics, 2018-08, Vol.55 (8), p.561-566

2018

Volltextzugriff (PDF)

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

Human genetics, 2016-07, Vol.135 (7), p.699-705

2016

Volltextzugriff (PDF)

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

American journal of human genetics, 2016-09, Vol.99 (3), p.711-719

2016

Volltextzugriff (PDF)

1 – 25 von 55

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(50)
Mit Volltextzugriff
(50)

Publikationsform

Sprache

Englisch
(55)
Japanisch
(17)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

Subgroup-Specific Prognostic Implications of TP53 Mutation in Medulloblastoma

De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

TP53 Alterations Determine Clinical Subgroups and Survival of Patients With Choroid Plexus Tumors

Recurrent Focal Copy-Number Changes and Loss of Heterozygosity Implicate Two Noncoding RNAs and One Tumor Suppressor Gene at Chromosome 3q13.31 in Osteosarcoma

Universal Poor Survival in Children With Medulloblastoma Harboring Somatic TP53 Mutations

PreBIND and Textomy--mining the biomedical literature for protein-protein interactions using a support vector machine

Monoallelic Expression Determines Oncogenic Progression and Outcome in Benign and Malignant Brain Tumors

Structural Basis for Autoinhibition of the EphB2 Receptor Tyrosine Kinase by the Unphosphorylated Juxtamembrane Region

P506: CLINICAL VALIDATION OF THE NORDIC GUIDELINES FOR GERMLINE TESTING IN MYELOID NEOPLASMS: RESULTS FROM A MULTI‐CENTER PROSPECTIVE COHORT STUDY

Paternal isodisomy of chromosome 2 as a cause of long chain 3‐hydroxyacyl‐CoA dehydrogenase (LCHAD) deficiency

Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification

Arrhythmogenic Dilated Cardiomyopathy Due to a Novel Mutation in the Desmoplakin Gene

Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity

De Novo Mutations Causing Shwachman-Diamond Syndrome and a Founder Mutation in SBDS in the French Canadian Population

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy

Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood

Hepatocyte growth factor/scatter factor stimulates chemotaxis and growth of malignant mesothelioma cells through c‐met receptor

Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Suchergebnisse filtern