Search Results - Abad-Morales, Víctor

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  1. 1
    New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform

    New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a... by Abad-Morales, Víctor, Wert, Ana, Ruiz Gómez, María Ángeles, Navarro, Rafael, Pomares, Esther

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  2. 2
    Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutations

    Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutations by Abad-Morales, Víctor, Burés-Jelstrup, Anniken, Navarro, Rafael, Ruiz-Nogales, Sheila, Méndez-Vendrell, Pilar, Corcóstegui, Borja, Pomares, Esther

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  3. 3
    Generation of an induced pluripotent stem cell line (FRIMOi007-A) derived from an incomplete achromatopsia patient carrying a novel homozygous mutation in PDE6C gene

    Generation of an induced pluripotent stem cell line (FRIMOi007-A) derived from an incomplete achromatopsia patient carrying a novel homozygous mutation in PDE6C gene by Domingo-Prim, Judit, Abad-Morales, Víctor, Riera, Marina, Navarro, Rafael, Corcostegui, Borja, Pomares, Esther

    Published in Stem cell research
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  4. 4
    Generation of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene

    Generation of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene by Domingo-Prim, Judit, Riera, Marina, Abad-Morales, Víctor, Ruiz-Nogales, Sheila, Corcostegui, Borja, Pomares, Esther

    Published in Stem cell research
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  5. 5
    Expression Atlas of the Deubiquitinating Enzymes in the Adult Mouse Retina, Their Evolutionary Diversification and Phenotypic Roles

    Expression Atlas of the Deubiquitinating Enzymes in the Adult Mouse Retina, Their Evolutionary Diversification and Phenotypic Roles by Esquerdo, Mariona, Grau-Bové, Xavier, Garanto, Alejandro, Toulis, Vasileios, Garcia-Monclús, Sílvia, Millo, Erica, López-Iniesta, Ma José, Abad-Morales, Víctor, Ruiz-Trillo, Iñaki, Marfany, Gemma

    Published in PloS one
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  6. 6
    Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4

    Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4 by Abad-Morales, Víctor, Navarro, Rafael, Burés-Jelstrup, Anniken, Pomares, Esther

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  7. 7
    mRNA expression analysis of the SUMO pathway genes in the adult mouse retina

    mRNA expression analysis of the SUMO pathway genes in the adult mouse retina by Abad-Morales, Víctor, Domènech, Elena B, Garanto, Alejandro, Marfany, Gemma

    Published in Biology open
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  8. 8
    Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4

    Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4 by Abad-Morales, Víctor, Navarro, Rafael, Burés-Jelstrup, Anniken, Pomares, Esther

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  9. 9
    Expression Atlas of the Deubiquitinating Enzymes in the Adult Mouse Retina, Their Evolutionary Diversification and Phenotypic Roles: e0150364

    Expression Atlas of the Deubiquitinating Enzymes in the Adult Mouse Retina, Their Evolutionary Diversification and Phenotypic Roles: e0150364 by Esquerdo, Mariona, Grau-Bove, Xavier, Garanto, Alejandro, Toulis, Vasileios, Garcia-Monclus, Silvia, Millo, Erica, Lopez-Iniesta, Ma Jose, Abad-Morales, Victor, Ruiz-Trillo, Inaki, Marfany, Gemma

    Published in PloS one
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