Hasil Pencarian - Eladio A. Velasco

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  1. 1
    UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays

    UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays oleh Linda Gailite, Alberto Valenzuela-Palomo, Lara Sanoguera-Miralles, Dmitrijs Rots, Madara Kreile, Eladio A. Velasco

    Diterbitkan 2020-03-01
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  2. 2
    Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays

    Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays oleh Eugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, Alberto Acedo, Alberto Acedo, Eladio A. Velasco

    Diterbitkan 2018-05-01
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  3. 3
    Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.

    Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18. oleh Eugenia Fraile-Bethencourt, Beatriz Díez-Gómez, Valeria Velásquez-Zapata, Alberto Acedo, David J Sanz, Eladio A Velasco

    Diterbitkan 2017-03-01
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  4. 4
    Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15

    Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15 oleh Eugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, María José Caloca, Susana Gómez-Barrero, Eladio A. Velasco

    Diterbitkan 2019-05-01
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  5. 5
    Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome

    Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syn... oleh Olatz Villate, Olatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, Alberto Valenzuela, Eladio A. Velasco, Detelina Grozeva, F. L. Raymond, María P. Botella, María-Isabel Tejada, María-Isabel Tejada, María-Isabel Tejada

    Diterbitkan 2018-01-01
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  6. 6
    Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.

    Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. oleh Ana Blanco, Miguel de la Hoya, Ana Osorio, Orland Diez, María Dolores Miramar, Mar Infante, Cristina Martinez-Bouzas, Asunción Torres, Adriana Lasa, Gemma Llort, Joan Brunet, Begoña Graña, Pedro Perez Segura, María José Garcia, Sara Gutiérrez-Enríquez, Ángel Carracedo, María-Isabel Tejada, Eladio A Velasco, María-Teresa Calvo, Judith Balmaña, Javier Benitez, Trinidad Caldés, Ana Vega

    Diterbitkan 2013-01-01
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