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(583,724 results)?
Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
Genes (Basel). 2022 Jan 15;13(1):149. doi: 10.3390/genes13010149.
Genes (Basel). 2022.
PMID: 35052489
Free PMC article.
WITHDRAWN. Universal neonatal hearing screening versus selective screening as part of the management of childhood deafness.
Puig Reixach MT, Municio A, Medà MC.
Puig Reixach MT, et al. Among authors: meda mc.
Cochrane Database Syst Rev. 2010 Jan 20;2010(1):CD003731. doi: 10.1002/14651858.CD003731.pub3.
Cochrane Database Syst Rev. 2010.
PMID: 20091550
Free PMC article.
Review.
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A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
Rodríguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Medá C, Curet C, Völter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedín S, Smith J, Cruz Tapia M, Cavallé L, Gelvez N, Primignani P, Gómez-Rosas E, Martín M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I.
Rodríguez-Ballesteros M, et al. Among authors: meda c.
Hum Mutat. 2008 Jun;29(6):823-31. doi: 10.1002/humu.20708.
Hum Mutat. 2008.
PMID: 18381613
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A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
Pera A, Villamar M, Viñuela A, Gandía M, Medà C, Moreno F, Hernández-Chico C.
Pera A, et al. Among authors: meda c.
Eur J Hum Genet. 2008 Aug;16(8):888-96. doi: 10.1038/ejhg.2008.30. Epub 2008 Feb 20.
Eur J Hum Genet. 2008.
PMID: 18285825
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A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome.
Aguirre LA, del Castillo I, Macaya A, Medá C, Villamar M, Moreno-Pelayo MA, Moreno F.
Aguirre LA, et al. Among authors: meda c.
Am J Med Genet A. 2006 Feb 15;140(4):392-7. doi: 10.1002/ajmg.a.31079.
Am J Med Genet A. 2006.
PMID: 16411215
No abstract available.
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