Resultats de la cerca - Daniel Natera‐de Benito

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  1. 1
    Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy

    Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy per Juan F. Vázquez‐Costa, Mònica Povedano, Andrés E. Nascimiento‐Osorio, Antonio Moreno Escribano, S. Kapetanovic García, Raúl Domínguez, J. Expósito, Laura González, Carla Marco, Julita Medina Castillo, Nuria Muelas, Daniel Natera‐de Benito, Nancy Carolina Ñungo Garzón, Inmaculada Pitarch Castellano, Teresa Sevilla, David Hervás

    Publicat 2022
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  2. 2
    Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations

    Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations per Xavier Suárez‐Calvet, Esther Fernández‐Simón, Daniel Natera‐de Benito, Cristina Jou, Patricia Piñol‐Jurado, Elisa Villalobos, C. Ortez, Alexandra Monceau, Marianela Schiava, Anna Codina, José Verdú-Díaz, James Clark, Zoe Laidler, Priyanka Mehra, Rasya Gokul-Nath, Jorge Alonso‐Pérez, Chiara Marini‐Bettolo, Giorgio Tasca, Volker Straub, Michela Guglieri, A. Nascimento, Jordi Díaz‐Manera

    Publicat 2023
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  3. 3
    Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

    Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain per Lídia González-Quereda, Maria José Rodríguez, Jordi Díaz‐Manera, Jorge Alonso‐Pérez, Eduard Gallardo, A. Nascimento, C. Ortez, Daniel Natera‐de Benito, Montse Olivé, Laura González, Adolfo López de Munaín, Miren Zulaica, Juan José Poza, Ivonne Jericó, Laura Torné, Pau Riera, José C. Milisenda, Aurora Sánchez, Glòria Garrabou, Isabel Llano‐Rivas, Marcos Madruga‐Garrido, P. Gallano

    Publicat 2020
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  4. 4
    Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

    Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment per Marivi V. Cascajo-Almenara, Natalia Juliá‐Palacios, Roser Urreizti, Ana Sánchez‐Cuesta, Daniel J.M. Fernández‐Ayala, Elena García-Díaz, Clara Oliva, Maria del Mar O ́Callaghan, Abraham J. Paredes‐Fuentes, Pedro Moreno, Jordi Muchart, A. Nascimento, C. Ortez, Daniel Natera‐de Benito, M. Pineda, Noelia Rivera, Tyler R. Fortuna, Deepa Rajan, Plácido Navas, Leonardo Salviati, Francesc Palau, Dèlia Yubero, Àngels García‐Cazorla, Udai Bhan Pandey, Carlos Santos–Ocaña, Rafael Artuch

    Publicat 2024
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  5. 5
    Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

    Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes per German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Holm Graeßner, Siddharth Banka, Alfons Macaya, Belén Pérez-Dueñas, Adam Jackson, Giovanni Stévanin, Jean‐Madeleine de Sainte Agathe, Markéta Havlovičová, Rita Horváth, Michele Pinelli, Nienke J.H. van Os, Bart P.C. van de Warrenburg, Anne‐Sophie Denommé‐Pichon, Marco Savarese, Mridul Johari, Bruno Dallapiccola, Marco Tartaglia, Martje G. Pauly, Anna Katharina Sommer, Tobias B. Haack, Ana Töpf, Didier Lacombe, Chiara Fallerini, Alessandra Renieri, Patrick F. Chinnery, Daniel Natera‐de Benito, A. Nascimento, Aurélien Trimouille, Francina Munell, Anna Marcé‐Grau, Ben Yaou Rabah, Gisèle Bonne, Liedewei Van de Vondel, Katja Lohmann, Stephan Ossowski

    Publicat 2024
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  6. 6
    The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)

    The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD) per Nicholas M. Allen, Mark O’Rahelly, B. Eymard, Mondher Chouchane, Andreas Hahn, Gerry Kearns, Dae‐Seong Kim, Shin Yun Byun, Cam‐Tu Émilie Nguyen, Ulrike Schara‐Schmidt, Heike Kölbel, Adela Della Marina, Christiane Schneider‐Gold, Kathryn Roefke, Andrea Thieme, Peter Van den Bergh, G Avalos, Rodrigo Álvarez‐Velasco, Daniel Natera‐de Benito, Man Hin Mark Cheng, Wing Ki Chan, Hoi Shan Wan, Mary Ann Thomas, Lauren Borch, Julie Lauzon, Cornelia Kornblum, Jens Reimann, Andreas Mueller, Thierry Küntzer, Fiona Norwood, Sithara Ramdas, Leslie Jacobson, Xiaobo Jie, Miguel Ángel Fernández-García, Elizabeth Wraige, Ming Lim, Jean‐Pierre Lin, Kristl G. Claeys, Selma Aktaş, Maryam Oskoui, Yael Hacohen, A. Zaki Masud, Maria Isabel Leite, Jacqueline Palace, Darryl C. De Vivo, Angela Vincent, Heinz Jungbluth

    Publicat 2023
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