المؤلفون: Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Cohen, Enzo, Nelson, Isabelle, Sickmann, Albert, Schara–schmidt, Ulrike, Hentschel, Andreas, Chinnery, Patrick, F, Kölbel, Heike, Roos, Andreas, Horvath, Rita

المساهمون: Newcastle Upon Tyne Hospitals NHS Foundation Trust, Barcelona Institute of Science and Technology (BIST), University of Cambridge UK (CAM), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Leibniz-Institut für Analytische Wissenschaften (ISAS), University of Aberdeen, Ruhr University Bochum = Ruhr-Universität Bochum (RUB), University Children's Hospital of Essen, University Hospital Essen (AöR), Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Isabelle Nelson, Ida Paramonov, Sophia Peters, Sivakumar Prasanth, Peter Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Joeri K van der Velde, Antonio Vitobello, Jonathan Baets, Danique Beijer, Gisèle Bonne, Judith Cossins, Teresinha Evangelista, Alessandra Ferlini, Peter Hackman, Michael G Hanna, Henry Houlden, Jarred Lau, Hanns Lochmüller, William L Macken, Francesco Musacchia, Andres Nascimento, Daniel Natera-de Benito, Vincenzo Nigro, Giulio Piluso, Veronica Pini, Robert D S Pitceathly, Kiran Polavarapu, Pedro M Rodriguez Cruz, Anna Sarkozy, Rita Selvatici, Rachel Thompson, Annalaura Torella, Bjarne Udd, Liedewei Van de Vondel, Jana Vandrovcova, Irina Zaharieva

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]

العلاقة: hal-03352467; https://hal.sorbonne-universite.fr/hal-03352467Test; https://hal.sorbonne-universite.fr/hal-03352467/documentTest; https://hal.sorbonne-universite.fr/hal-03352467/file/s41431-021-00851-8.pdfTest

الإتاحة: https://doi.org/10.1038/s41431-021-00851-8Test
https://hal.sorbonne-universite.fr/hal-03352467Test
https://hal.sorbonne-universite.fr/hal-03352467/documentTest
https://hal.sorbonne-universite.fr/hal-03352467/file/s41431-021-00851-8.pdfTest

المؤلفون: Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Sickmann, Albert, Schara–Schmidt, Ulrike, Hentschel, Andreas, Chinnery, Patrick, Kölbel, Heike, Roos, Andreas, Horvath, Rita

المساهمون: Newcastle Upon Tyne Hospitals NHS Foundation Trust, Barcelona Institute of Science and Technology (BIST), University of Cambridge UK (CAM), Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., University of Aberdeen, Ruhr-Universität Bochum Bochum, University Children's Hospital of Essen Essen, Germany, Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Isabelle Nelson, Ida Paramonov, Sophia Peters, Sivakumar Prasanth, Peter Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Joeri K van der Velde, Antonio Vitobello, Jonathan Baets, Danique Beijer, Gisèle Bonne, Judith Cossins, Teresinha Evangelista, Alessandra Ferlini, Peter Hackman, Michael G Hanna, Henry Houlden, Jarred Lau, Hanns Lochmüller, William L Macken, Francesco Musacchia, Andres Nascimento, Daniel Natera-de Benito, Vincenzo Nigro, Giulio Piluso, Veronica Pini, Robert D S Pitceathly, Kiran Polavarapu, Pedro M Rodriguez Cruz, Anna Sarkozy, Rita Selvatici, Rachel Thompson, Annalaura Torella, Bjarne Udd, Liedewei Van de Vondel, Jana Vandrovcova, Irina Zaharieva

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: [SDV.MHEP.AHA]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO]

العلاقة: hal-03352467; https://hal.sorbonne-universite.fr/hal-03352467Test; https://hal.sorbonne-universite.fr/hal-03352467/documentTest; https://hal.sorbonne-universite.fr/hal-03352467/file/s41431-021-00851-8.pdfTest

الإتاحة: https://doi.org/10.1038/s41431-021-00851-8Test
https://hal.sorbonne-universite.fr/hal-03352467Test
https://hal.sorbonne-universite.fr/hal-03352467/documentTest
https://hal.sorbonne-universite.fr/hal-03352467/file/s41431-021-00851-8.pdfTest

المؤلفون: de Boer, Elke, Ockeloen, Charlotte W., Matalonga, Leslie, Horvath, Rita, Cohen, Enzo, Nelson, Isabelle, Rodenburg, Richard J., Coenen, Marieke J. H., Janssen, Mirian, Henssen, Dylan, Gilissen, Christian, Steyaert, Wouter, Paramonov, Ida, Trimouille, Aurelien, Kleefstra, Tjitske, Verloes, Alain, Vissers, Lisenka E. L. M.

المساهمون: Radboud University Medical Center Nijmegen, Institute of Environmental Science and Technology Barcelona (ICTA), Universitat Autònoma de Barcelona = Autonomous University of Barcelona = Universidad Autónoma de Barcelona (UAB), University of Cambridge UK (CAM), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux, Hôpital Robert Debré, Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Leslie Matalonga, Isabelle Nelson, Sophia Peters, Ida Paramonov, Sivakumar Prasanth, Peter Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Ana Töpf, Joeri K van der Velde, Antonio Vitobello, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Elke de Boer, Laurence Faivre, Tobias B Haack, Anna Hammarsjö, Marketa Havlovicova, Alexander Hoischen, Anne Hugon, Adam Jackson, Tjitske Kleefstra, Anna Lindstrand, Estrella López-Martín, Milan Macek Jr, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Michele Pinelli, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Alain Verloes, Lisenka Vissers, Klea Vyshka, Birte Zurek

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: hal-03403537; https://hal.science/hal-03403537Test; PUBMEDCENTRAL: PMC8440553

الإتاحة: https://doi.org/10.1038/s41431-021-00937-3Test
https://hal.science/hal-03403537Test

المؤلفون: de Boer, Elke, Ockeloen, Charlotte W., Matalonga, Leslie, Horvath, Rita, Cohen, Enzo, Nelson, Isabelle, Rodenburg, Richard J., Coenen, Marieke J. H., Janssen, Mirian, Henssen, Dylan, Gilissen, Christian, Steyaert, Wouter, Paramonov, Ida, Trimouille, Aurelien, Kleefstra, Tjitske, Verloes, Alain, Vissers, Lisenka E. L. M.

المساهمون: Radboud University Medical Center Nijmegen, Institute of Environmental Science and Technology Barcelona (ICTA), Universitat Autònoma de Barcelona = Autonomous University of Barcelona = Universidad Autónoma de Barcelona (UAB), University of Cambridge UK (CAM), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux, Hôpital Robert Debré, Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Leslie Matalonga, Isabelle Nelson, Sophia Peters, Ida Paramonov, Sivakumar Prasanth, Peter Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Ana Töpf, Joeri K van der Velde, Antonio Vitobello, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Elke de Boer, Laurence Faivre, Tobias B Haack, Anna Hammarsjö, Marketa Havlovicova, Alexander Hoischen, Anne Hugon, Adam Jackson, Tjitske Kleefstra, Anna Lindstrand, Estrella López-Martín, Milan Macek Jr, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Michele Pinelli, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Alain Verloes, Lisenka Vissers, Klea Vyshka, Birte Zurek

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: hal-03403537; https://hal.science/hal-03403537Test; PUBMEDCENTRAL: PMC8440553

الإتاحة: https://doi.org/10.1038/s41431-021-00937-3Test
https://hal.science/hal-03403537Test

المؤلفون: de Boer, Elke, Ockeloen, Charlotte W., Matalonga, Leslie, Horvath, Rita, Cohen, Enzo, Nelson, Isabelle, Rodenburg, Richard J., Coenen, Marieke J. H., Janssen, Mirian, Henssen, Dylan, Gilissen, Christian, Steyaert, Wouter, Paramonov, Ida, Trimouille, Aurelien, Kleefstra, Tjitske, Verloes, Alain, Vissers, Lisenka E. L. M.

المساهمون: Radboud University Medical Center Nijmegen, Institute of Environmental Science and Technology Barcelona (ICTA), Universitat Autònoma de Barcelona = Autonomous University of Barcelona = Universidad Autónoma de Barcelona (UAB), University of Cambridge UK (CAM), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux, Hôpital Robert Debré, Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Leslie Matalonga, Isabelle Nelson, Sophia Peters, Ida Paramonov, Sivakumar Prasanth, Peter Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Ana Töpf, Joeri K van der Velde, Antonio Vitobello, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Elke de Boer, Laurence Faivre, Tobias B Haack, Anna Hammarsjö, Marketa Havlovicova, Alexander Hoischen, Anne Hugon, Adam Jackson, Tjitske Kleefstra, Anna Lindstrand, Estrella López-Martín, Milan Macek Jr, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Michele Pinelli, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Alain Verloes, Lisenka Vissers, Klea Vyshka, Birte Zurek

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: hal-03403537; https://hal.science/hal-03403537Test; PUBMEDCENTRAL: PMC8440553

الإتاحة: https://doi.org/10.1038/s41431-021-00937-3Test
https://hal.science/hal-03403537Test

المؤلفون: de Boer, Elke, Ockeloen, Charlotte W., Matalonga, Leslie, Horvath, Rita, Rodenburg, Richard J., Coenen, Marieke J. H., JANSSEN, Mirian, HENSSEN, Dylan, Gilissen, Christian, Steyaert, Wouter, Paramonov, Ida, Trimouille, Aurelien, Kleefstra, Tjitske, Verloes, Alain, VISSERS, Lisenka E. L. M.

المساهمون: Radboud University Medical Center Nijmegen, Institute of Environmental Science and Technology Barcelona (ICTA), Universitat Autònoma de Barcelona (UAB), University of Cambridge UK (CAM), Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux Bordeaux, Hôpital Robert Debré, Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Leslie Matalonga, Isabelle Nelson, Sophia Peters, Ida Paramonov, Sivakumar Prasanth, Peter Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Ana Töpf, Joeri K van der Velde, Antonio Vitobello, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Elke de Boer, Laurence Faivre, Tobias B Haack, Anna Hammarsjö, Marketa Havlovicova, Alexander Hoischen, Anne Hugon, Adam Jackson, Tjitske Kleefstra, Anna Lindstrand, Estrella López-Martín, Milan Macek Jr, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Michele Pinelli, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Alain Verloes, Lisenka Vissers, Klea Vyshka, Birte Zurek

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: hal-03403537; https://hal.archives-ouvertes.fr/hal-03403537Test

الإتاحة: https://doi.org/10.1038/s41431-021-00937-3Test
https://hal.archives-ouvertes.fr/hal-03403537Test