UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 415

Sortiert nach

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients

Human genetics, 2022-04, Vol.141 (3-4), p.665-681

2022

Link zum Volltext

Verfügbarkeit prüfen

Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients

Scientific reports, 2022-01, Vol.12 (1), p.634-634, Article 634

2022

Link zum Volltext

Verfügbarkeit prüfen

Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss

Human genetics, 2022-04, Vol.141 (3-4), p.929-937

2022

Link zum Volltext

Verfügbarkeit prüfen

Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss

Human genetics, 2022-04, Vol.141 (3-4), p.903-914

2022

Link zum Volltext

Verfügbarkeit prüfen

Cochlear Implantation From the Perspective of Genetic Background

Anatomical record (Hoboken, N.J. : 2007), 2020-03, Vol.303 (3), p.563-593

2020

Link zum Volltext

Verfügbarkeit prüfen

Genetic background in late-onset sensorineural hearing loss patients

Journal of human genetics, 2022-04, Vol.67 (4), p.223-230

2022

Link zum Volltext

Verfügbarkeit prüfen

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients

PloS one, 2013-08, Vol.8 (8), p.e71381-e71381

2013

Link zum Volltext

Verfügbarkeit prüfen

Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores

Human genetics, 2022-04, Vol.141 (3-4), p.363-382

2022

Link zum Volltext

Verfügbarkeit prüfen

The Clinical Next‐Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification

Human mutation, 2017-03, Vol.38 (3), p.252-259

2017

Link zum Volltext

Verfügbarkeit prüfen

Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS

PloS one, 2013-10, Vol.8 (10), p.e75793-e75793

2013

Link zum Volltext

Verfügbarkeit prüfen

Vestibular Preservation After Cochlear Implantation Using the Round Window Approach

Frontiers in neurology, 2021-04, Vol.12, p.656592-656592

2021

Link zum Volltext

Verfügbarkeit prüfen

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

Nature communications, 2020-03, Vol.11 (1), p.1343-1343, Article 1343

2020

Link zum Volltext

Verfügbarkeit prüfen

Prevalence and clinical features of hearing loss caused by EYA4 variants

Scientific reports, 2020-02, Vol.10 (1), p.3662-3662, Article 3662

2020

Link zum Volltext

Verfügbarkeit prüfen

Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study

PloS one, 2012-08, Vol.7 (8), p.e40366-e40366

2012

Link zum Volltext

Verfügbarkeit prüfen

Detailed MR imaging assessment of endolymphatic hydrops in patients with SLC26A4 mutations

Auris, nasus, larynx, 2020-12, Vol.47 (6), p.958-964

2020

Link zum Volltext

Verfügbarkeit prüfen

Frequency and clinical features of hearing loss caused by STRC deletions

Scientific reports, 2019-03, Vol.9 (1), p.4408, Article 4408

2019

Link zum Volltext

Verfügbarkeit prüfen

Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss

Scientific reports, 2020-04, Vol.10 (1), p.7056-7056, Article 7056

2020

Link zum Volltext

Verfügbarkeit prüfen

Milestones toward cochlear gene therapy for patients with hereditary hearing loss

Laryngoscope investigative otolaryngology, 2021-10, Vol.6 (5), p.958-967

2021

Link zum Volltext

Verfügbarkeit prüfen

Validation of RNA Extraction Methods and Suitable Reference Genes for Gene Expression Studies in Developing Fetal Human Inner Ear Tissue

International journal of molecular sciences, 2024-03, Vol.25 (5), p.2907

2024

Link zum Volltext

Verfügbarkeit prüfen

Treatment algorithm for idiopathic sudden sensorineural hearing loss based on epidemiologic surveys of a large Japanese cohort

Acta oto-laryngologica, 2020-01, Vol.140 (1), p.32-39

2020

Link zum Volltext

Verfügbarkeit prüfen

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

PloS one, 2016-12, Vol.11 (12), p.e0166781-e0166781

2016

Link zum Volltext

Verfügbarkeit prüfen

Etiology of single-sided deafness and asymmetrical hearing loss

Acta oto-laryngologica, 2017-03, Vol.137 (sup565), p.S2-S7

2017

Link zum Volltext

Verfügbarkeit prüfen

Identification of source populations for reintroduction in extinct populations based on genome-wide SNPs and mtDNA sequence: a case study of the endangered subalpine grassland butterfly Aporia hippia (Lepidoptera; Pieridae) in Japan

Journal of insect conservation, 2022-02, Vol.26 (1), p.121-130

2022

Link zum Volltext

Verfügbarkeit prüfen

Ubiquinol-10 supplementation activates mitochondria functions to decelerate senescence in senescence-accelerated mice

Antioxidants & redox signaling, 2014-06, Vol.20 (16), p.2606

2014

Link zum Volltext

Verfügbarkeit prüfen

Genetic testing has the potential to impact hearing preservation following cochlear implantation

Acta oto-laryngologica, 2020-06, Vol.140 (6), p.438-444

2020

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 415

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(364)
Mit Volltextzugriff
(384)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(283)
Life Sciences & Biomedicine
(257)
Humans
(227)
Otorhinolaryngology
(147)
Male
(137)
Female
(134)
Hearing Loss
(103)
Adult
(94)
Mutation
(88)
Middle Aged
(86)
Biological And Medical Sciences
(70)
Child
(69)
Aged
(63)
Hearing Loss, Sensorineural - Genetics
(62)
Pedigree
(62)
Genetics & Heredity
(61)
Animals
(56)
Hearing Impairment
(53)
Adolescent
(51)
Medical Sciences
(50)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

Acta Oto-Laryngologica
(71)
Audiology Japan
(36)
Annals Of Otology, Rhinology & Laryngology
(25)
Plos One
(21)
Auris, Nasus, Larynx
(16)
Auris・nasus・larynx
(16)
Journal Of Human Genetics
(16)
Brain Research
(10)
Genes
(10)
Human Genetics
(10)

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(3)
... seit 90 Tagen
(9)

Menü

Weitere Dienste

Einstellungen

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients

Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients

Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss

Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss

Cochlear Implantation From the Perspective of Genetic Background

Genetic background in late-onset sensorineural hearing loss patients

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients

Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores

The Clinical Next‐Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification

Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS

Vestibular Preservation After Cochlear Implantation Using the Round Window Approach

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

Prevalence and clinical features of hearing loss caused by EYA4 variants

Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study

Detailed MR imaging assessment of endolymphatic hydrops in patients with SLC26A4 mutations

Frequency and clinical features of hearing loss caused by STRC deletions

Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss

Milestones toward cochlear gene therapy for patients with hereditary hearing loss

Validation of RNA Extraction Methods and Suitable Reference Genes for Gene Expression Studies in Developing Fetal Human Inner Ear Tissue

Treatment algorithm for idiopathic sudden sensorineural hearing loss based on epidemiologic surveys of a large Japanese cohort

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

Etiology of single-sided deafness and asymmetrical hearing loss

Identification of source populations for reintroduction in extinct populations based on genome-wide SNPs and mtDNA sequence: a case study of the endangered subalpine grassland butterfly Aporia hippia (Lepidoptera; Pieridae) in Japan

Ubiquinol-10 supplementation activates mitochondria functions to decelerate senescence in senescence-accelerated mice

Genetic testing has the potential to impact hearing preservation following cochlear implantation

Suchergebnisse filtern