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Updating the Genetic Landscape of Inherited Retinal Dystrophies.
García Bohórquez B, Aller E, Rodríguez Muñoz A, Jaijo T, García García G, Millán JM. García Bohórquez B, et al. Among authors: rodriguez munoz a. Front Cell Dev Biol. 2021 Jul 13;9:645600. doi: 10.3389/fcell.2021.645600. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 34327195 Free PMC article.
Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.
García-García G, Sanchez-Navarro I, Aller E, Jaijo T, Fuster-Garcia C, Rodríguez-Munoz A, Vallejo E, Tellería JJ, Vázquez S, Beltrán S, Derdak S, Zurita O, Villaverde-Montero C, Avila-Fernández A, Corton M, Blanco-Kelly F, Hakonarson H, Millán JM, Ayuso C. García-García G, et al. Among authors: rodriguez munoz a. Mol Vis. 2020 Mar 18;26:216-225. eCollection 2020. Mol Vis. 2020. PMID: 32214787 Free PMC article.
Usher Syndrome: Genetics of a Human Ciliopathy.
Fuster-García C, García-Bohórquez B, Rodríguez-Muñoz A, Aller E, Jaijo T, Millán JM, García-García G. Fuster-García C, et al. Among authors: rodriguez munoz a. Int J Mol Sci. 2021 Jun 23;22(13):6723. doi: 10.3390/ijms22136723. Int J Mol Sci. 2021. PMID: 34201633 Free PMC article. Review.
46 results