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...

Genetic etiology of non-syndromic hearing loss in Europe

Human genetics, 2022-04, Vol.141 (3-4), p.683-696

2022

Volltextzugriff (PDF)

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss

Nature genetics, 2009-05, Vol.41 (5), p.609-613

2009

Volltextzugriff (PDF)

Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants

Disease models & mechanisms, 2023-08, Vol.16 (8)

2023

Volltextzugriff (PDF)

Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse

EMBO molecular medicine, 2023-11, Vol.15 (11), p.e17611-n/a

2023

Volltextzugriff (PDF)

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts

International journal of molecular sciences, 2022-04, Vol.23 (8), p.4410

2022

Volltextzugriff (PDF)

Selective miRNA inhibition in CD8 + cytotoxic T lymphocytes enhances HIV-1 specific cytotoxic responses

Frontiers in immunology, 2022-09, Vol.13, p.998368

2022

Volltextzugriff (PDF)

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

Genetics in medicine, 2021-11, Vol.23 (11), p.2208-2212

2021

Volltextzugriff (PDF)

A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family

Genes, 2021-03, Vol.12 (3), p.411

2021

Volltextzugriff (PDF)

Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases

Genes, 2024-07, Vol.15 (7), p.951

2024

Volltextzugriff (PDF)

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

Frontiers in genetics, 2018-10, Vol.9, p.479-479

2018

Volltextzugriff (PDF)

Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides

Frontiers in genome editing, 2023-04, Vol.5, p.1104666-1104666

2023

Volltextzugriff (PDF)

Selective miRNA Modulation Fails to Activate HIV Replication in In Vitro Latency Models

Molecular therapy. Nucleic acids, 2019-09, Vol.17, p.323-336

2019

Volltextzugriff (PDF)

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

Human molecular genetics, 2009-08, Vol.18 (16), p.3075-3089

2009

Volltextzugriff (PDF)

Novel Pathogenic Variants in the Gene Encoding Stereocilin ( STRC ) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects

Biomedicines, 2023-10, Vol.11 (11), p.2943

2023

Volltextzugriff (PDF)

Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases

Genes, 2019-07, Vol.10 (7), p.529

2019

Volltextzugriff (PDF)

Expression of Alt a 1 allergen from Alternaria alternata in the yeast Yarrowia lipolytica

FEMS microbiology letters, 2012-08, Vol.333 (2), p.121-128

2012

Volltextzugriff (PDF)

Proteomic analysis reveals metabolic changes during yeast to hypha transition in Yarrowia lipolytica

Journal of mass spectrometry., 2007-11, Vol.42 (11), p.1453-1462

2007

Volltextzugriff (PDF)

Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy

Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.261-272

2023

Volltextzugriff (PDF)

Proteome profile changes during mouse testis development

Comparative biochemistry and physiology. Part D, Genomics & proteomics, 2006-12, Vol.1 (4), p.404-415

2006

Volltextzugriff (PDF)

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

Genetics in medicine, 2019-10, Vol.21 (10), p.2239-2247

2019

Volltextzugriff (PDF)

A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

American journal of medical genetics. Part A, 2008-04, Vol.146A (8), p.1032-1037

2008

Volltextzugriff (PDF)

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV

American journal of medical genetics. Part A, 2009-10, Vol.149A (10), p.2296-2302

2009

Volltextzugriff (PDF)

1 – 25 von 54

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(49)
Mit Volltextzugriff
(49)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Genetic etiology of non-syndromic hearing loss in Europe

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss

Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants

Cingulin regulates hair cell cuticular plate morphology and is required for hearing in human and mouse

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts

Selective miRNA inhibition in CD8 + cytotoxic T lymphocytes enhances HIV-1 specific cytotoxic responses

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family

Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

Specific correction of pyruvate kinase deficiency-causing point mutations by CRISPR/Cas9 and single-stranded oligodeoxynucleotides

Selective miRNA Modulation Fails to Activate HIV Replication in In Vitro Latency Models

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

Novel Pathogenic Variants in the Gene Encoding Stereocilin ( STRC ) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects

Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases

Expression of Alt a 1 allergen from Alternaria alternata in the yeast Yarrowia lipolytica

Proteomic analysis reveals metabolic changes during yeast to hypha transition in Yarrowia lipolytica

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

CSVS, a crowdsourcing database of the Spanish population genetic variability

Pathogenic variants of the coenzyme A biosynthesis‐associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal‐recessive dilated cardiomyopathy

Proteome profile changes during mouse testis development

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

Suchergebnisse filtern