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American journal of human genetics, ISSN 0002-9297, 06/2007, Volume 80, Issue 6, pp. 1055 - 1063
...) and nonsyndromic hearing loss associated with enlarged vestibular aqueduct (EVA), also known as “ DFNB4,” a large percentage of patients with this phenotype lack mutations in the SLC26A4 coding region in one or both alleles... 
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Hearing Loss - diagnosis | Genetic Testing | Luciferases - metabolism | Humans | Cercopithecus aethiops | Molecular Sequence Data | Trans-Activators - chemistry | Forkhead Transcription Factors - metabolism | Membrane Transport Proteins - genetics | Forkhead Transcription Factors - chemistry | Trans-Activators - genetics | Conserved Sequence | Female | Transcription, Genetic | Electrophoretic Mobility Shift Assay | Binding Sites | Genes, Reporter | Siblings | Protein Structure, Tertiary | Amino Acid Sequence | Promoter Regions, Genetic | Forkhead Transcription Factors - genetics | Syndrome | Hearing Loss - genetics | Sequence Homology, Amino Acid | Animals | Pedigree | Vestibular Aqueduct - pathology | Alleles | Protein Binding | Heterozygote | Trans-Activators - metabolism | Mice | Models, Genetic | Mutation | COS Cells | Vestibular diseases | Genetic aspects | Research | Genetic transcription | Genetic research | Medical disorders | Genes | Genomics | Index Medicus | Amino Acid | pathology | Transcription | Genetic | MEDICIN OCH HÄLSOVETENSKAP | Sequence Homology | genetics | Luciferases | Vestibular Aqueduct | Genetic Screening | MEDICAL AND HEALTH SCIENCES | chemistry | Promoter Regions (Genetics) | Tertiary | Trans-Activators | Reporter | diagnosis | Protein Structure | Membrane Transport Proteins | metabolism | Models | Forkhead Transcription Factors | Hearing Loss
Journal Article
International journal of molecular sciences, ISSN 1422-0067, 01/2018, Volume 19, Issue 1, p. 209
...% of cases of non-syndromic hearing loss associated with an enlarged vestibular aqueduct. A cohort of nineteen patients from Austria with hearing loss and a radiological... 
Non-syndromic hearing loss | SLC26A4 | Enlarged vestibular aqueduct | Phenotypes | Ion transport | Hearing impairment | Patients | Genetic screening | Hearing loss | Proteins | Pathogenicity | Connexin 26 | Alterations | Functional testing | Anion exchanging | Vestibular system | Genotypes | Index Medicus | non-syndromic hearing loss | enlarged vestibular aqueduct
Journal Article
Journal Article
The Journal of clinical investigation, ISSN 0021-9738, 11/2011, Volume 121, Issue 11, pp. 4516 - 4525
Journal Article
Journal Article
The Laryngoscope, ISSN 0023-852X, 04/2014, Volume 124, Issue 4, pp. E134 - E140
Journal Article