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...

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

Brain (London, England : 1878), 2016-09, Vol.139 (Pt 9), p.2420-2430

2016

Volltextzugriff (PDF)

A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses

Genetics in medicine, 2019-10, Vol.21 (10), p.2199-2207

2019

Volltextzugriff (PDF)

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria

PLoS genetics, 2013-10, Vol.9 (10), p.e1003823-e1003823

2013

Volltextzugriff (PDF)

Methods for Identifying Higher-Order Chromatin Structure

Annual review of genomics and human genetics, 2012-01, Vol.13 (1), p.59-82

2012

Volltextzugriff (PDF)

Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features

Journal of medical genetics, 2019-12, Vol.56 (12), p.850-854

2019

Volltextzugriff (PDF)

De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy

European journal of human genetics : EJHG, 2024-08, Vol.32 (8), p.912-919

2024

Volltextzugriff (PDF)

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2

Genetics in medicine, 2017-01, Vol.19 (1), p.13-19

2017

Volltextzugriff (PDF)

Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions

Clinical genetics, 2020-02, Vol.97 (2), p.305-311

2020

Volltextzugriff (PDF)

The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development

American journal of medical genetics. Part A, 2023-12, Vol.191 (12), p.2831-2836

2023

Volltextzugriff (PDF)

Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 ( Irf6 )

Nature genetics, 2006-11, Vol.38 (11), p.1335-1340

2006

Volltextzugriff (PDF)

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Genetics in medicine, 2017-02, Vol.19 (2), p.224-235

2017

Volltextzugriff (PDF)

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Genetics in medicine, 2020-03, Vol.22 (3), p.538-546

2020

Volltextzugriff (PDF)

Large scale gene expression profiles of regenerating inner ear sensory epithelia

PloS one, 2007-06, Vol.2 (6), p.e525-e525

2007

Volltextzugriff (PDF)

Toward a Systems Biology of Mouse Inner Ear Organogenesis: Gene Expression Pathways, Patterns and Network Analysis

Genetics (Austin), 2007-09, Vol.177 (1), p.631-653

2007

Volltextzugriff (PDF)

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

American journal of medical genetics. Part A, 2013-07, Vol.161A (7), p.1523-1530

2013

Volltextzugriff (PDF)

Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Genetics in medicine, 2018-09, Vol.20 (9), p.1099-1102

2018

Volltextzugriff (PDF)

Identification of direct downstream targets of Dlx5 during early inner ear development

Human molecular genetics, 2011-04, Vol.20 (7), p.1262-1273

2011

Volltextzugriff (PDF)

Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

Clinical case reports, 2018-07, Vol.6 (7), p.1208-1213

2018

Volltextzugriff (PDF)

Diagnostic exome sequencing identifies GLI 2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

Clinical case reports, 2018-07, Vol.6 (7), p.1208-1213

2018

Volltextzugriff (PDF)

Novel Approaches to Studying the Genetic Basis of Cerebellar Development

Cerebellum (London, England), 2010-09, Vol.9 (3), p.272-283

2010

Volltextzugriff (PDF)

Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

Cell genomics, 2023-02, Vol.3 (2), p.100258-100258, Article 100258

2023

Volltextzugriff (PDF)

Testing for Genetically Modified Foods Using PCR

Journal of chemical education, 2005-04, Vol.82 (4), p.597

2005

Volltextzugriff (PDF)

A retrospective review of multiple findings in diagnostic exome sequencing: halF.A.re distinct and halF.A.re overlapping diagnoses

Genetics in medicine, 2019-10, Vol.21 (10), p.2199-2207

2019

Volltextzugriff (PDF)

Clinical genome sequencing in patients with suspected rare genetic disease in Peru

Npj genomic medicine, 2024-10, Vol.9 (1), p.51-10, Article 51

2024

Volltextzugriff (PDF)

Identification of direct downstream targets of DIx5 during early inner ear development

Human molecular genetics, 2011, Vol.20 (7), p.1262-1273

2011

Volltextzugriff (PDF)

1 – 25 von 30

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(27)
Mit Volltextzugriff
(28)

Publikationsform

Sprache

Englisch
(30)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline

A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria

Methods for Identifying Higher-Order Chromatin Structure

Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features

De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2

Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions

The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development

Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 ( Irf6 )

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Large scale gene expression profiles of regenerating inner ear sensory epithelia

Toward a Systems Biology of Mouse Inner Ear Organogenesis: Gene Expression Pathways, Patterns and Network Analysis

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Identification of direct downstream targets of Dlx5 during early inner ear development

Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

Diagnostic exome sequencing identifies GLI 2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

Novel Approaches to Studying the Genetic Basis of Cerebellar Development

Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

Testing for Genetically Modified Foods Using PCR

A retrospective review of multiple findings in diagnostic exome sequencing: halF.A.re distinct and halF.A.re overlapping diagnoses

Clinical genome sequencing in patients with suspected rare genetic disease in Peru

Identification of direct downstream targets of DIx5 during early inner ear development

Suchergebnisse filtern