Hasil Pencarian - Hiart Maortua

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  1. 1
    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 oleh Olatz Villate, Hiart Maortua, Hiart Maortua, María-Isabel Tejada, María-Isabel Tejada, María-Isabel Tejada, Isabel Llano-Rivas

    Diterbitkan 2022-02-01
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  2. 2
    3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases

    3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases oleh Ana Belén de la Hoz, Hiart Maortua, Ainhoa García-Rives, María Jesús Martínez-González, Maitane Ezquerra, María-Isabel Tejada

    Diterbitkan 2015-01-01
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  3. 3
    Effect of AGG Interruptions on FMR1 Maternal Transmissions

    Effect of AGG Interruptions on FMR1 Maternal Transmissions oleh 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

    Diterbitkan 2020-07-01
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  4. 4
    Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?

    Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an inci... oleh Sergio Carrera, Ana Belén Rodríguez-Martínez, Intza Garin, Esther Sarasola, Cristina Martínez, Hiart Maortua, Almudena Callejo, Abigail Ruiz de Lobera, Alberto Muñoz, Nagore Miñambres, Pablo Jiménez-Labaig

    Diterbitkan 2023-01-01
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