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...

Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss

BMC research notes, 2024-05, Vol.17 (1), p.131-131, Article 131

2024

Volltextzugriff (PDF)

Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans

PLoS genetics, 2020-04, Vol.16 (4), p.e1008643-e1008643

2020

Volltextzugriff (PDF)

Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome

Scientific reports, 2022-01, Vol.12 (1), p.969-969, Article 969

2022

Volltextzugriff (PDF)

Apoptosis of type I spiral ganglion neuron cells in Otof-mutant mice

Neuroscience letters, 2023-04, Vol.803, p.137178-137178, Article 137178

2023

Volltextzugriff (PDF)

Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease‐associated variants

Human mutation, 2020-01, Vol.41 (1), p.316-331

2020

Volltextzugriff (PDF)

Loss of Pax3 causes reduction of melanocytes in the developing mouse cochlea

Scientific reports, 2024-01, Vol.14 (1), p.2210-2210, Article 2210

2024

Volltextzugriff (PDF)

Clinical Profiles of DFNA11 at Diverse Stages of Development and Aging in a Large Family Identified by Linkage Analysis

Otology & neurotology, 2020-07, Vol.41 (6), p.e663-e673

2020

Volltextzugriff (PDF)

Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes

Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.114-114, Article 114

2022

Volltextzugriff (PDF)

Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis

Scientific reports, 2023-04, Vol.13 (1), p.6595-6595, Article 6595

2023

Volltextzugriff (PDF)

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study

Orphanet journal of rare diseases, 2013-10, Vol.8 (1), p.172-172, Article 172

2013

Volltextzugriff (PDF)

Mitochondrial mutations in maternally inherited hearing loss

BMC medical genetics, 2017-03, Vol.18 (1), p.32-32, Article 32

2017

Volltextzugriff (PDF)

Gene expression dataset for whole cochlea of Macaca fascicularis

Scientific reports, 2018-10, Vol.8 (1), p.15554-9, Article 15554

2018

Volltextzugriff (PDF)

A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10

BMC pediatrics, 2018-05, Vol.18 (1), p.171-171, Article 171

2018

Volltextzugriff (PDF)

Frequency and specific characteristics of the incomplete partition type III anomaly in children

The Laryngoscope, 2017-07, Vol.127 (7), p.1663-1669

2017

Volltextzugriff (PDF)

Attenuation of progressive hearing loss in DBA/2J mice by reagents that affect epigenetic modifications is associated with up-regulation of the zinc importer Zip4

PloS one, 2015-04, Vol.10 (4), p.e0124301-e0124301

2015

Volltextzugriff (PDF)

A Novel Animal Model of Hearing Loss Caused by Acute Endoplasmic Reticulum Stress in the Cochlea

Journal of Pharmacological Sciences, 2012, Vol.118(3), pp.363-372

2012

Volltextzugriff (PDF)

A mutation in the heparin-binding site of noggin as a novel mechanism of proximal symphalangism and conductive hearing loss

Biochemical and biophysical research communications, 2014-05, Vol.447 (3), p.496-502

2014

Volltextzugriff (PDF)

Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1

Auris, nasus, larynx, 2018-04, Vol.45 (2), p.222-226

2018

Volltextzugriff (PDF)

Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss

Orphanet journal of rare diseases, 2017-09, Vol.12 (1), p.157-157, Article 157

2017

Volltextzugriff (PDF)

Gap Junction Beta-2 p.Val84Met Can Cause Autosomal Dominant Syndromic Hearing Loss With Keratoderma

Curēus (Palo Alto, CA), 2024-02

2024

Volltextzugriff (PDF)

GJB2-associated hearing loss undetected by hearing screening of newborns

Gene, 2013-12, Vol.532 (1), p.41-45

2013

Volltextzugriff (PDF)

High-level heteroplasmy for the m.7445A>G mitochondrial DNA mutation can cause progressive sensorineural hearing loss in infancy

International journal of pediatric otorhinolaryngology, 2018-05, Vol.108, p.125-131

2018

Volltextzugriff (PDF)

The first sporadic case of DFNA11 identified by next-generation sequencing

International journal of pediatric otorhinolaryngology, 2017-09, Vol.100, p.183-186

2017

Volltextzugriff (PDF)

Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss

The Laryngoscope, 2014-04, Vol.124 (4), p.E134-E140

2014

Volltextzugriff (PDF)

TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins

BMC genomics, 2003-06, Vol.4 (1), p.24-24, Article 24

2003

Volltextzugriff (PDF)

1 – 25 von 75

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(73)
Mit Volltextzugriff
(70)

Publikationsform

Artikel
(74)
Berichte
(1)

Sprache

Englisch
(72)
Japanisch
(24)

Erscheinungsjahr

n.n

Thema

Science & Technology
(55)
Life Sciences & Biomedicine
(49)
Humans
(37)
Hearing Loss
(31)
Male
(20)
Genetics & Heredity
(19)
Mutation
(19)
Female
(18)
Animals
(15)
Otorhinolaryngology
(15)
Hearing Loss - Genetics
(14)
Hearing Loss, Sensorineural - Genetics
(13)
Pedigree
(12)
Adult
(10)
Child
(10)
Infant
(10)
Molecular Sequence Data
(10)
Child, Preschool
(9)
Genetic Testing
(9)
Deafness
(8)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss

Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans

Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome

Apoptosis of type I spiral ganglion neuron cells in Otof-mutant mice

Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease‐associated variants

Loss of Pax3 causes reduction of melanocytes in the developing mouse cochlea

Clinical Profiles of DFNA11 at Diverse Stages of Development and Aging in a Large Family Identified by Linkage Analysis

Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes

Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study

Mitochondrial mutations in maternally inherited hearing loss

Gene expression dataset for whole cochlea of Macaca fascicularis

A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10

Frequency and specific characteristics of the incomplete partition type III anomaly in children

Attenuation of progressive hearing loss in DBA/2J mice by reagents that affect epigenetic modifications is associated with up-regulation of the zinc importer Zip4

A Novel Animal Model of Hearing Loss Caused by Acute Endoplasmic Reticulum Stress in the Cochlea

A mutation in the heparin-binding site of noggin as a novel mechanism of proximal symphalangism and conductive hearing loss

Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1

Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss

Gap Junction Beta-2 p.Val84Met Can Cause Autosomal Dominant Syndromic Hearing Loss With Keratoderma

GJB2-associated hearing loss undetected by hearing screening of newborns

High-level heteroplasmy for the m.7445A>G mitochondrial DNA mutation can cause progressive sensorineural hearing loss in infancy

The first sporadic case of DFNA11 identified by next-generation sequencing

Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss

TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins

Suchergebnisse filtern