Showing 1 - 8 results of 8 for search 'Miriam Guitart', query time: 0.04s Refine Results
  1. 1
    Phenotype variability in thirteen 16p11.2 deletion patients

    Phenotype variability in thirteen 16p11.2 deletion patients by Diana Rodà, Elisabeth Gabau, Neus Baena, Miriam Guitart

    Published 2018-07-01
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  2. 2
    Variabilidad fenotípica en 13 casos de deleción 16p11.2

    Variabilidad fenotípica en 13 casos de deleción 16p11.2 by Diana Rodà, Elisabeth Gabau, Neus Baena, Miriam Guitart

    Published 2018-07-01
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  3. 3
    Decline of Sperm Quality over the Last Two Decades in the South of Europe: A Retrospective Study in Infertile Patients

    Decline of Sperm Quality over the Last Two Decades in the South of Europe: A Retrospective Study in Infertile Patients by Emma Garcia-Grau, Judith Lleberia, Laura Costa, Miriam Guitart, Marc Yeste, Jordi Benet, María José Amengual, Jordi Ribas-Maynou

    Published 2022-12-01
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  4. 4
    The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome

    The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome by Cinthia Aguilera, Stefan Hümmer, Stefan Hümmer, Marc Masanas, Elisabeth Gabau, Miriam Guitart, A. Arockia Jeyaprakash, Miguel F. Segura, Anna Santamaria, Anna Ruiz

    Published 2021-05-01
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  5. 5
    Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors

    Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors by Alex Martin-Trujillo, Enrique Vidal, Ana Monteagudo-Sánchez, Marta Sanchez-Delgado, Sebastian Moran, Jose Ramon Hernandez Mora, Holger Heyn, Miriam Guitart, Manel Esteller, David Monk

    Published 2017-09-01
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  6. 6
    Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature

    Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature by Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz, Miriam Guitart

    Published 2017-11-01
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  7. 7
    Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome

    Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome by Neus Baena, David Monk, Cinthia Aguilera, Mario F. Fraga, Agustín F. Fernández, Elisabeth Gabau, Raquel Corripio, Nuria Capdevila, Juan Pablo Trujillo, Anna Ruiz, Miriam Guitart

    Published 2024-05-01
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  8. 8
    Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome.

    Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome. by Marta Bueno, Susanna Esteba-Castillo, Ramon Novell, Olga Giménez-Palop, Ramon Coronas, Elisabeth Gabau, Raquel Corripio, Neus Baena, Marina Viñas-Jornet, Míriam Guitart, David Torrents-Rodas, Joan Deus, Jesús Pujol, Mercedes Rigla, Assumpta Caixàs

    Published 2016-01-01
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