Hasil Pencarian - Luis Alberto Pérez-Jurado

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  1. 1
    A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a <i>TRAPPC1</i>-Associated Neurodevelopmental Syndrome

    A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a <i>TRAPPC1</i>-Associated Neurodevelopmental Syndrome oleh Erta Zykaj, Chelsea Abboud, Paria Asadi, Simane Warsame, Hashem Almousa, Miroslav P. Milev, Brittany M. Greco, Marcos López-Sánchez, Drago Bratkovic, Aashiq H. Kachroo, Luis Alberto Pérez-Jurado, Michael Sacher

    Diterbitkan 2024-08-01
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  2. 2
    Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

    Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum oleh Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificación Marin-Reina, Mar O’Callaghan, Daniel Grinberg, Eva Bermejo-Sánchez, Susanna Balcells

    Diterbitkan 2020-02-01
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  3. 3
    Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia

    Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia oleh Judith Reina-Castillón, Roser Pujol, Marcos López-Sánchez, Benjamín Rodríguez-Santiago, Miriam Aza-Carmona, Juan Ramón González, José Antonio Casado, Juan Antonio Bueren, Julián Sevilla, Isabel Badel, Albert Català, Cristina Beléndez, María Ángeles Dasí, Cristina Díaz de Heredia, Jean Soulier, Detlev Schindler, Luis Alberto Pérez-Jurado, Jordi Surrallés

    Diterbitkan 2017-01-01
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  4. 4
    Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome

    Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome oleh Juan Francisco Vázquez-Costa, Juan Francisco Vázquez-Costa, Juan Francisco Vázquez-Costa, María Payá-Montes, Marina Martínez-Molina, Teresa Jaijo, Teresa Jaijo, Jazek Szymanski, Jazek Szymanski, Miguel Mazón, Pablo Sopena-Novales, ENoD Consortium, Jordi Pérez-Tur, Jordi Pérez-Tur, Jordi Pérez-Tur, Teresa Sevilla, Teresa Sevilla, Teresa Sevilla, Beatriz Morte, Rosario Carmona, Javier Perez-Florido, Virginia Aquino, Francisco Ortuño, Daniel Lopez-Lopez, Gerrit Bostelmann, Joaquin Dopazo, Luis Alberto Pérez-Jurado

    Diterbitkan 2021-08-01
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