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Genetic Screening of the Usher Syndrome in Cuba.
Front Genet. 2019 May 22;10:501. doi: 10.3389/fgene.2019.00501. eCollection 2019.
Front Genet. 2019.
PMID: 31231422
Free PMC article.
Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.
Stemerdink M, García-Bohórquez B, Schellens R, Garcia-Garcia G, Van Wijk E, Millan JM.
Stemerdink M, et al. Among authors: garcia bohorquez b.
Hum Genet. 2022 Apr;141(3-4):737-758. doi: 10.1007/s00439-021-02324-w. Epub 2021 Jul 30.
Hum Genet. 2022.
PMID: 34331125
Review.
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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: garcia bohorquez b.
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.
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Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies.
Fuster-García C, García-Bohórquez B, Rodríguez-Muñoz A, Millán JM, García-García G.
Fuster-García C, et al. Among authors: garcia bohorquez b.
Genes (Basel). 2020 Apr 27;11(5):473. doi: 10.3390/genes11050473.
Genes (Basel). 2020.
PMID: 32349249
Free PMC article.
Review.
Item in Clipboard
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.
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.
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Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.
Rodriguez-Muñoz A, Liquori A, García-Bohorquez B, Jaijo T, Aller E, Millán JM, García-García G.
Rodriguez-Muñoz A, et al. Among authors: garcia bohorquez b.
Sci Rep. 2022 Jan 7;12(1):68. doi: 10.1038/s41598-021-03925-1.
Sci Rep. 2022.
PMID: 34996991
Free PMC article.
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CONCOMITANT MUTATIONS IN INHERITED RETINAL DYSTROPHIES: Why the Reproductive and Therapeutic Counseling Should Be Addressed Cautiously.
Rodríguez-Muñoz A, García-Bohórquez B, Udaondo P, Hervás-Ontiveros A, Salom D, Aller E, Jaijo T, García-García G, Millán J.
Rodríguez-Muñoz A, et al. Among authors: garcia bohorquez b.
Retina. 2021 Sep 1;41(9):1966-1975. doi: 10.1097/IAE.0000000000003103.
Retina. 2021.
PMID: 33411470
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