Showing 1 - 7 results of 7 for search 'Olatz Villate', query time: 0.03s Refine Results
  1. 1
    Effect of AGG Interruptions on FMR1 Maternal Transmissions

    Effect of AGG Interruptions on FMR1 Maternal Transmissions by Olatz Villate, Olatz Villate, Olatz Villate, Nekane Ibarluzea, Nekane Ibarluzea, Hiart Maortua, Hiart Maortua, Ana Belén de la Hoz, Ana Belén de la Hoz, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Laia Rodriguez-Revenga, Silvia Izquierdo-Álvarez, María Isabel Tejada, María Isabel Tejada, María Isabel Tejada

    Published 2020-07-01
    Get full text
    Article
  2. 2
    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... by 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

    Published 2018-01-01
    Get full text
    Article
  3. 3
    Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)

    Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82) by María Isabel Tejada, María Isabel Tejada, María Isabel Tejada, Olatz Villate, Olatz Villate, Olatz Villate, Nekane Ibarluzea, Nekane Ibarluzea, Ana Belén de la Hoz, Ana Belén de la Hoz, Cristina Martínez-Bouzas, Cristina Martínez-Bouzas, Cristina Martínez-Bouzas, Elena Beristain, Francisco Martínez, Michael J. Friez, Beatriz Sobrino, Beatriz Sobrino, Francisco Barros, Francisco Barros

    Published 2019-10-01
    Get full text
    Article
  4. 4
    RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome

    RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome by Olatz Villate, Hiart Maortua, Hiart Maortua, María-Isabel Tejada, María-Isabel Tejada, María-Isabel Tejada, Isabel Llano-Rivas

    Published 2022-02-01
    Get full text
    Article
  5. 5
    FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea

    FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea by Bárbara Rodrigues, Vanessa Sousa, Carolyn M. Yrigollen, Flora Tassone, Olatz Villate, Emily G. Allen, Anne Glicksman, Nicole Tortora, Sarah L. Nolin, António J. A. Nogueira, Paula Jorge

    Published 2024-06-01
    Get full text
    Article
  6. 6
    GLIS3, a susceptibility gene for type 1 and type 2 diabetes, modulates pancreatic beta cell apoptosis via regulation of a splice variant of the BH3-only protein Bim.

    GLIS3, a susceptibility gene for type 1 and type 2 diabetes, modulates pancreatic beta cell apoptosis via regulation of a splice variant of the BH3-only protein Bim. by Tatiane C Nogueira, Flavia M Paula, Olatz Villate, Maikel L Colli, Rodrigo F Moura, Daniel A Cunha, Lorella Marselli, Piero Marchetti, Miriam Cnop, Cécile Julier, Decio L Eizirik

    Published 2013-05-01
    Get full text
    Article
  7. 7
    Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing

    Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing by Piedad Alba-Pavón, Lide Alaña, Miriam Gutierrez-Jimeno, Susana García-Obregón, Teresa Imízcoz, Elena Panizo, Paula González-Urdiales, Aizpea Echebarria-Barona, Ricardo Lopez Almaraz, Laura Zaldumbide, Itziar Astigarraga, Ana Patiño-García, Olatz Villate

    Published 2023-02-01
    Get full text
    Article

Search Tools: