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COCHLEAR IMPLANTATION IN CHILDREN WITH ENLARGED VESTIBULAR AQUEDUCT (EVA): RELATIONSHIP TO PENDRED SYNDROME DIAGNOSIS, SURGICAL OUTCOMES, AND RADIOLOGICAL FINDINGS.
- Published in:
- Journal of Hearing Science, 2023, v. 13, n. 2, p. 29, doi. 10.17430/jhs/166669
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- Publication type:
- Article
Evaluation of hearing screening in newborns in Poland.
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- Polish Journal of Pediatrics / Pediatria Polska, 2022, v. 97, n. 3, p. 249, doi. 10.5114/polp.2022.119899
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- Publication type:
- Article
Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome.
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- Balkan Medical Journal, 2021, v. 38, n. 4, p. 244, doi. 10.5152/balkanmedj.2021.20182
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- Publication type:
- Article
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss.
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- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0790-2
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- Publication type:
- Article
Knowledge about goitre among female school-going children in Wellega Province, Ethiopia.
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- Tanzania Journal of Health Research, 2018, v. 20, n. 4, p. 1, doi. 10.4314/thrb.v20i4.5
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- Publication type:
- Article
p.Y556C is a Recurrent Mutation in Pendred Syndrome causing Gene SLC26A4 in Punjabi Population.
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- Pakistan Journal of Zoology, 2018, v. 50, n. 3, p. 1113, doi. 10.17582/journal.pjz/2018.50.3.1113.1118
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- Publication type:
- Article
Mutation analysis of <italic>SLC26A4</italic> (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.
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- 2018
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- Publication type:
- Abstract
Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4.
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- 2017
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- Publication type:
- journal article
Unresolved questions regarding human hereditary deafness.
- Published in:
- Oral Diseases, 2017, v. 23, n. 5, p. 551, doi. 10.1111/odi.12516
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- Publication type:
- Article
Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.
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- 2017
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- Publication type:
- journal article
Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders.
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- Russian Journal of Genetics, 2017, v. 53, n. 1, p. 128, doi. 10.1134/S1022795416120085
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- Publication type:
- Article
Patients with Pendred syndrome: is cochlear implantation beneficial?
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- Clinical Otolaryngology, 2016, v. 41, n. 4, p. 386, doi. 10.1111/coa.12532
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- Publication type:
- Article
Pendred Syndrome in a Newborn with Neck Swelling: A Case Report.
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- 2016
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- Publication type:
- journal article
Correlation of vestibular aqueduct size with air-bone gap in enlarged vestibular aqueduct syndrome.
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- 2016
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- Publication type:
- journal article
Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes.
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- Molecular Medicine Reports, 2016, v. 14, n. 1, p. 319, doi. 10.3892/mmr.2016.5280
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- Publication type:
- Article
Effect of SLC26 anion transporter disease-causing mutations on the stability of the homologous STAS domain of E. coli DauA (YchM).
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- Biochemical Journal, 2016, v. 473, n. 5, p. 615, doi. 10.1042/BJ20151025
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- Publication type:
- Article
Clinical significance of BRAF V600E mutation in 154 patients with thyroid nodules.
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- Oncology Letters, 2015, v. 9, n. 6, p. 2633, doi. 10.3892/ol.2015.3119
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- Publication type:
- Article
Identification of Novel Functional Null Allele of SLC26A4 Associated with Enlarged Vestibular Aqueduct and Its Possible Implication.
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- Audiology & Neurotology, 2014, v. 19, n. 5, p. 319, doi. 10.1159/000366190
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- Publication type:
- Article
Goiter and hearing impairment: A case of a male patient with Pendred syndrome.
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- 2014
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- Publication type:
- Case Study
Bipolar disorder in Pendred syndrome: A case report of two siblings.
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- 2014
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- Publication type:
- Letter to the Editor
Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.
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- Clinical Genetics, 2014, v. 86, n. 3, p. 270, doi. 10.1111/cge.12273
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- Publication type:
- Article
Heterogenous Morphologic forms of Goiter in Autoimmune thyroid disease: An Insight based on a Prospective Surgical series of 88 cases.
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- World Journal of Endocrine Surgery, 2014, v. 6, n. 2, p. 71, doi. 10.2005/jp-journals-10002-1140
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- Publication type:
- Article
SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct.
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- Laryngoscope, 2010, v. 120, n. 2, p. 384, doi. 10.1002/lary.20722
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- Publication type:
- Article