UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 32

Sortiert nach

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

American journal of medical genetics. Part A, 2011-06, Vol.155A (6), p.1298-1313

2011

Link zum Volltext

Verfügbarkeit prüfen

Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2

American journal of human genetics, 2010, Vol.86 (1), p.65-71

2010

Link zum Volltext

Verfügbarkeit prüfen

The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss

International journal of audiology, 2013-02, Vol.52 (2), p.124-133

2013

Link zum Volltext

Verfügbarkeit prüfen

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Circulation (New York, N.Y.), 2017-11, Vol.136 (21), p.2022-2033

2017

Link zum Volltext

Verfügbarkeit prüfen

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American journal of human genetics, 2019-05, Vol.104 (5), p.948-956

2019

Link zum Volltext

Verfügbarkeit prüfen

A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2006-03, Vol.141B (2), p.184-191

2006

Link zum Volltext

Verfügbarkeit prüfen

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American journal of human genetics, 2019-06, Vol.104 (6), p.1210-1222

2019

Link zum Volltext

Verfügbarkeit prüfen

Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion

American journal of human genetics, 2005-06, Vol.76 (6), p.1081-1086

2005

Link zum Volltext

Verfügbarkeit prüfen

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

American journal of human genetics, 2017-02, Vol.100 (2), p.334-342

2017

Link zum Volltext

Verfügbarkeit prüfen

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

Human molecular genetics, 2014-05, Vol.23 (10), p.2511-2526

2014

Link zum Volltext

Verfügbarkeit prüfen

Kantaputra mesomelic dysplasia: A second reported family

American journal of medical genetics. Part A, 2004-07, Vol.128A (1), p.6-11

2004

Link zum Volltext

Verfügbarkeit prüfen

The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders

Ophthalmology (Rochester, Minn.), 2019-06, Vol.126 (6), p.888-907

2019

Link zum Volltext

Verfügbarkeit prüfen

Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans

Human molecular genetics, 2019-10, Vol.28 (20), p.3466-3474

2019

Link zum Volltext

Verfügbarkeit prüfen

IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome

Human molecular genetics, 1997-11, Vol.6 (12), p.2179-2185

1997

Link zum Volltext

Verfügbarkeit prüfen

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

Nature genetics, 2000-09, Vol.26 (1), p.56-60

2000

Link zum Volltext

Verfügbarkeit prüfen

Functional assessment of variants associated with Wolfram syndrome

Human molecular genetics, 2019-11, Vol.28 (22), p.3815-3824

2019

Link zum Volltext

Verfügbarkeit prüfen

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1318-1327

2015

Link zum Volltext

Verfügbarkeit prüfen

Aminoglycoside-induced deafness during treatment of acute leukaemia

Archives of disease in childhood, 2010-02, Vol.95 (2), p.153-155

2010

Link zum Volltext

Verfügbarkeit prüfen

STAG3 truncating variant as the cause of primary ovarian insufficiency

European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.135-138

2016

Link zum Volltext

Verfügbarkeit prüfen

Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss

Human molecular genetics, 2015-02, Vol.24 (4), p.1036-1044

2015

Link zum Volltext

Verfügbarkeit prüfen

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy

Investigative ophthalmology & visual science, 2017-06, Vol.58 (7), p.2906-2914

2017

Link zum Volltext

Verfügbarkeit prüfen

Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4

Science (American Association for the Advancement of Science), 1995-02, Vol.267 (5198), p.685-688

1995

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 32

Suche als RSS-Feed

Aktive Filter

KollektionSpringerLink Journals - AutoHoldings

ThemaPedigree

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(32)
Mit Volltextzugriff
(30)

Publikationsform

Artikel
(32)

Sprache

Englisch
(32)
Japanisch
(10)

Erscheinungsjahr

n.n

Thema

14 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2

Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23

The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor

Kantaputra mesomelic dysplasia: A second reported family

The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders

Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans

IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

Functional assessment of variants associated with Wolfram syndrome

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

Aminoglycoside-induced deafness during treatment of acute leukaemia

STAG3 truncating variant as the cause of primary ovarian insufficiency

Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy

Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4

Aktive Filter

Suchergebnisse filtern