UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 63

Sortiert nach

THOC1 deficiency leads to late-onset nonsyndromic hearing loss through p53-mediated hair cell apoptosis

PLoS genetics, 2020-08, Vol.16 (8), p.e1008953

2020

Volltextzugriff (PDF)

Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice

Frontiers in cellular neuroscience, 2021-12, Vol.15, p.804345-804345

2021

Volltextzugriff (PDF)

Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss

PloS one, 2015-05, Vol.10 (5), p.e0127879-e0127879

2015

Volltextzugriff (PDF)

Identification and Characterization of a Cryptic Genomic Deletion-Insertion in EYA1 Associated with Branchio-Otic Syndrome

Neural plasticity, 2021, Vol.2021, p.5524381-9

2021

Volltextzugriff (PDF)

Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans

Neural plasticity, 2016-01, Vol.2016, p.9890827-6

2016

Volltextzugriff (PDF)

Characterization of spectrum, de novo rate and genotype-phenotype correlation of dominant GJB2 mutations in Chinese hans

PloS one, 2014-06, Vol.9 (6), p.e100483-e100483

2014

Volltextzugriff (PDF)

A 1.6-Mb microdeletion in chromosome 17q22 leads to NOG-related symphalangism spectrum disorder without intellectual disability

PloS one, 2015-03, Vol.10 (3), p.e0120816-e0120816

2015

Volltextzugriff (PDF)

NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness

Neural plasticity, 2016-01, Vol.2016, p.3018132-6

2016

Volltextzugriff (PDF)

Association of GRM7 variants with different phenotype patterns of age-related hearing impairment in an elderly male Han Chinese population

PloS one, 2013-10, Vol.8 (10), p.e77153-e77153

2013

Volltextzugriff (PDF)

Molecular etiology of non-dominant, non-syndromic, mild-to-moderate childhood hearing impairment in Chinese Hans

American journal of medical genetics. Part A, 2014-12, Vol.164A (12), p.3115-3119

2014

Volltextzugriff (PDF)

Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome

Scientific reports, 2016-10, Vol.6 (1), p.35498-35498, Article 35498

2016

Volltextzugriff (PDF)

A Dominant Mutation in the Stereocilia-Expressing Gene TBC1D24 is a Probable Cause for Nonsyndromic Hearing Impairment

Human mutation, 2014-07, Vol.35 (7), p.814-818

2014

Volltextzugriff (PDF)

A homozygous MITF mutation leads to familial Waardenburg syndrome type 4

American journal of medical genetics. Part A, 2019-02, Vol.179 (2), p.243-248

2019

Volltextzugriff (PDF)

Carrier re-sequencing reveals rare but benign variants in recessive deafness genes

Scientific reports, 2017-09, Vol.7 (1), p.11355-5, Article 11355

2017

Volltextzugriff (PDF)

Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct

International journal of pediatric otorhinolaryngology, 2015-08, Vol.79 (8), p.1351-1353

2015

Volltextzugriff (PDF)

A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family

Annals of otology, rhinology & laryngology, 2015-09, Vol.124 (9), p.745-751

2015

Volltextzugriff (PDF)

p53 performs an essential role in mediating the oncogenic stimulus triggered by loss of expression of neurofibromatosis type 2 during in vitro tumor progression

Oncology letters, 2017-08, Vol.14 (2), p.2223-2231

2017

Volltextzugriff (PDF)

A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibular aqueduct but without bi-allelic SLC26A4 mutations

International journal of pediatric otorhinolaryngology, 2015-12, Vol.79 (12), p.2248-2252

2015

Volltextzugriff (PDF)

Identification of both MT-RNR1 m.1555A>G and bi-allelic GJB2 mutations in probands with non-syndromic hearing loss

International journal of pediatric otorhinolaryngology, 2014-04, Vol.78 (4), p.614-617

2014

Volltextzugriff (PDF)

The European GWAS-identified risk SNP rs457717 within IQGAP2 is not associated with age-related hearing impairment in Han male Chinese population

European archives of oto-rhino-laryngology, 2016-07, Vol.273 (7), p.1677-1687

2016

Volltextzugriff (PDF)

A 1.6-Mb Microdeletion in Chromosome 17q22 Leads to NOG-Related Symphalangism Spectrum Disorder without Intellectual Disability: e0120816

PloS one, 2015-03, Vol.10 (3)

2015

Volltextzugriff (PDF)

A serial mediation model reveals the association between parental over-protection and academic entitlement among nursing students

Scientific reports, 2024-07, Vol.14 (1), p.15703-10, Article 15703

2024

Volltextzugriff (PDF)

Ammonia for post-healing of formamidinium-based Perovskite films

Nature communications, 2022-07, Vol.13 (1), p.4417-4417, Article 4417

2022

Volltextzugriff (PDF)

Polyacrylonitrile‐Coordinated Perovskite Solar Cell with Open‐Circuit Voltage Exceeding 1.23 V

Angewandte Chemie International Edition, 2022-02, Vol.61 (8), p.e202113932-n/a

International ed. in English, 2022

Volltextzugriff (PDF)

Disease severity and clinical outcomes of community-acquired pneumonia caused by non-influenza respiratory viruses in adults: a multicentre prospective registry study from the CAP-China Network

The European respiratory journal, 2019-08, Vol.54 (2), p.1802406

2019

Volltextzugriff (PDF)

1 – 25 von 63

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(60)
Mit Volltextzugriff
(63)

Publikationsform

Artikel
(63)

Sprache

Englisch
(62)
Japanisch
(2)

Erscheinungsjahr

n.n

Thema

Science & Technology
(45)
Life Sciences & Biomedicine
(21)
Humans
(20)
Mutation
(17)
Male
(14)
Hearing Loss
(13)
Perovskites
(13)
Photovoltaic Cells
(13)
Solar Cells
(13)
Technology
(13)
Chemistry
(12)
Female
(12)
Science & Technology - Other Topics
(12)
Materials Science
(11)
Pedigree
(11)
Physical Sciences
(11)
Materials Science, Multidisciplinary
(10)
Child
(9)
Energy Conversion Efficiency
(9)
Perovskite Solar Cells
(9)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

THOC1 deficiency leads to late-onset nonsyndromic hearing loss through p53-mediated hair cell apoptosis

Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice

Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss

Identification and Characterization of a Cryptic Genomic Deletion-Insertion in EYA1 Associated with Branchio-Otic Syndrome

Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans

Characterization of spectrum, de novo rate and genotype-phenotype correlation of dominant GJB2 mutations in Chinese hans

A 1.6-Mb microdeletion in chromosome 17q22 leads to NOG-related symphalangism spectrum disorder without intellectual disability

NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness

Association of GRM7 variants with different phenotype patterns of age-related hearing impairment in an elderly male Han Chinese population

Molecular etiology of non-dominant, non-syndromic, mild-to-moderate childhood hearing impairment in Chinese Hans

Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome

A Dominant Mutation in the Stereocilia-Expressing Gene TBC1D24 is a Probable Cause for Nonsyndromic Hearing Impairment

A homozygous MITF mutation leads to familial Waardenburg syndrome type 4

Carrier re-sequencing reveals rare but benign variants in recessive deafness genes

Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct

A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family

p53 performs an essential role in mediating the oncogenic stimulus triggered by loss of expression of neurofibromatosis type 2 during in vitro tumor progression

A 7666-bp genomic deletion is frequent in Chinese Han deaf patients with non-syndromic enlarged vestibular aqueduct but without bi-allelic SLC26A4 mutations

Identification of both MT-RNR1 m.1555A>G and bi-allelic GJB2 mutations in probands with non-syndromic hearing loss

The European GWAS-identified risk SNP rs457717 within IQGAP2 is not associated with age-related hearing impairment in Han male Chinese population

A 1.6-Mb Microdeletion in Chromosome 17q22 Leads to NOG-Related Symphalangism Spectrum Disorder without Intellectual Disability: e0120816

A serial mediation model reveals the association between parental over-protection and academic entitlement among nursing students

Ammonia for post-healing of formamidinium-based Perovskite films

Polyacrylonitrile‐Coordinated Perovskite Solar Cell with Open‐Circuit Voltage Exceeding 1.23 V

Disease severity and clinical outcomes of community-acquired pneumonia caused by non-influenza respiratory viruses in adults: a multicentre prospective registry study from the CAP-China Network

Suchergebnisse filtern