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Page 1
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.
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
Gandía M, Fernández-Toral J, Solanellas J, Domínguez-Ruiz M, Gómez-Rosas E, Del Castillo FJ, Villamar M, Moreno-Pelayo MA, Del Castillo I.
Gandía M, et al. Among authors: gomez rosas e.
Pediatr Res. 2015 Jul;78(1):97-102. doi: 10.1038/pr.2015.56. Epub 2015 Mar 18.
Pediatr Res. 2015.
PMID: 25785835
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MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.
Wesdorp M, Murillo-Cuesta S, Peters T, Celaya AM, Oonk A, Schraders M, Oostrik J, Gomez-Rosas E, Beynon AJ, Hartel BP, Okkersen K, Koenen HJPM, Weeda J, Lelieveld S, Voermans NC, Joosten I, Hoyng CB, Lichtner P, Kunst HPM, Feenstra I, de Bruijn SE; DOOFNL Consortium; Admiraal RJC, Yntema HG, van Wijk E, Del Castillo I, Serra P, Varela-Nieto I, Pennings RJE, Kremer H.
Wesdorp M, et al. Among authors: gomez rosas e.
Am J Hum Genet. 2018 Jul 5;103(1):74-88. doi: 10.1016/j.ajhg.2018.05.011. Epub 2018 Jun 28.
Am J Hum Genet. 2018.
PMID: 29961571
Free PMC article.
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Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects.
Domínguez-Ruiz M, Ruiz-Palmero L, Buonfiglio PI, García-Vaquero I, Gómez-Rosas E, Goñi M, Villamar M, Morín M, Moreno-Pelayo MA, Elgoyhen AB, Del Castillo FJ, Dalamón V, Del Castillo I.
Domínguez-Ruiz M, et al. Among authors: gomez rosas e.
Biomedicines. 2023 Oct 31;11(11):2943. doi: 10.3390/biomedicines11112943.
Biomedicines. 2023.
PMID: 38001944
Free PMC article.
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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: gomez rosas e.
Hum Mutat. 2008 Jun;29(6):823-31. doi: 10.1002/humu.20708.
Hum Mutat. 2008.
PMID: 18381613
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A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study.
Domínguez-Ruiz M, Murillo-Cuesta S, Contreras J, Cantero M, Garrido G, Martín-Bernardo B, Gómez-Rosas E, Fernández A, Del Castillo FJ, Montoliu L, Varela-Nieto I, Del Castillo I.
Domínguez-Ruiz M, et al. Among authors: gomez rosas e.
BMC Genomics. 2024 Apr 11;25(1):359. doi: 10.1186/s12864-024-10289-z.
BMC Genomics. 2024.
PMID: 38605287
Free PMC article.
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