Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Ros-Pardo D"'
Autor:
Furia F; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark., Levy AM; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark., Theunis M; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Bamshad MJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA., Bartos MN; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Brancati F; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.; Human Functional Genetics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Roma, Rome, Italy., Cejudo L; CHU de Poitiers, Service de Génétique, Poitiers, France., Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, Washington, USA., De Luca C; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy., Dean SJ; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Egense A; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA., Goel H; General Genetics Service, Hunter Genetics, Waratah, New South Wales, Australia.; School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia., Guenzel AJ; GeneDx Inc., Gaithersburg, Maryland, USA., Hüffmeier U; Institute of Human Genetics, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Erlangen, Germany., Legius E; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Marcos-Alcalde I; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Niclass T; CHU de Poitiers, Service de Génétique, Poitiers, France., Planes M; Service de Génétique Clinique, CHRU de Brest, Brest, France., Redon S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, INSERM, Etablissement Français du Sang, UMR 1078, Brest, France., Ros-Pardo D; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Rouault K; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, INSERM, Etablissement Français du Sang, UMR 1078, Brest, France., Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Erlangen, Germany., Shen JJ; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA., Tao AM; Vagelos School of Physicians and Surgeons, Columbia University, New York, New York, USA., Thiffault I; Department of Pathology, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USA., Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Laboratory for the Genetics of Cognition, KU Leuven, Leuven, Belgium., Wentzensen IM; GeneDx Inc., Gaithersburg, Maryland, USA., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark., Gomez-Puertas P; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Chung WK; Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Gardella E; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark.; Department of Neurophysiology, The Danish Epilepsy Centre, Dianalund, Denmark., Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Nov; Vol. 106 (5), pp. 574-584. Date of Electronic Publication: 2024 Jul 11.
Autor:
Arévalo-Romero JA; Unidad de Ingeniería Celular y Molecular, Instituto Distrital de Ciencia, Biotecnología e Innovación en Salud, IDCBIS, Bogotá 111611, Colombia.; Instituto de Errores Innatos del Metabolismo, Facultad de Ciencias, Pontificia Universidad Javeriana, Bogotá 110231, Colombia., López-Cantillo G; Unidad de Ingeniería Celular y Molecular, Instituto Distrital de Ciencia, Biotecnología e Innovación en Salud, IDCBIS, Bogotá 111611, Colombia., Moreno-Jiménez S; Unidad de Ingeniería Celular y Molecular, Instituto Distrital de Ciencia, Biotecnología e Innovación en Salud, IDCBIS, Bogotá 111611, Colombia., Marcos-Alcalde Í; Grupo de Modelado Molecular del Centro de Biología Molecular Severo Ochoa, 14 CSIC-UAM, 28049 Madrid, Spain., Ros-Pardo D; Grupo de Modelado Molecular del Centro de Biología Molecular Severo Ochoa, 14 CSIC-UAM, 28049 Madrid, Spain., Camacho BA; Unidad de Ingeniería Celular y Molecular, Instituto Distrital de Ciencia, Biotecnología e Innovación en Salud, IDCBIS, Bogotá 111611, Colombia., Gómez-Puertas P; Grupo de Modelado Molecular del Centro de Biología Molecular Severo Ochoa, 14 CSIC-UAM, 28049 Madrid, Spain., Ramírez-Segura CA; Unidad de Ingeniería Celular y Molecular, Instituto Distrital de Ciencia, Biotecnología e Innovación en Salud, IDCBIS, Bogotá 111611, Colombia.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Oct 08; Vol. 25 (19). Date of Electronic Publication: 2024 Oct 08.
Autor:
Ros-Pardo D; Centro de Biología Molecular Severo Ochoa, CSIC-UAM, CL Nicolás Cabrera, 1, 28049 Madrid, Spain., Gómez-Puertas P; Centro de Biología Molecular Severo Ochoa, CSIC-UAM, CL Nicolás Cabrera, 1, 28049 Madrid, Spain. Electronic address: pagomez@cbm.csic.es., Marcos-Alcalde Í; Centro de Biología Molecular Severo Ochoa, CSIC-UAM, CL Nicolás Cabrera, 1, 28049 Madrid, Spain.
Publikováno v:
International journal of biological macromolecules [Int J Biol Macromol] 2024 Sep; Vol. 276 (Pt 1), pp. 133822. Date of Electronic Publication: 2024 Jul 14.
Autor:
Campos-Díaz A; Molecular Mechanisms of Cancer Program, Instituto de Biología Molecular y Celular del Cáncer, Consejo Superior de Investigaciones Científicas (CSIC), Universidad de Salamanca, 37007, Salamanca, Spain.; Instituto de Investigación Biomédica de Salamanca (IBSAL), Hospital Universitario de Salamanca, 37007, Salamanca, Spain., Morejón-García P; Molecular Mechanisms of Cancer Program, Instituto de Biología Molecular y Celular del Cáncer, Consejo Superior de Investigaciones Científicas (CSIC), Universidad de Salamanca, 37007, Salamanca, Spain.; Instituto de Investigación Biomédica de Salamanca (IBSAL), Hospital Universitario de Salamanca, 37007, Salamanca, Spain., Monte-Serrano E; Molecular Mechanisms of Cancer Program, Instituto de Biología Molecular y Celular del Cáncer, Consejo Superior de Investigaciones Científicas (CSIC), Universidad de Salamanca, 37007, Salamanca, Spain.; Instituto de Investigación Biomédica de Salamanca (IBSAL), Hospital Universitario de Salamanca, 37007, Salamanca, Spain., Ros-Pardo D; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), 28040, Madrid, Spain., Marcos-Alcalde I; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), 28040, Madrid, Spain., Gómez-Puertas P; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), 28040, Madrid, Spain., Lazo PA; Molecular Mechanisms of Cancer Program, Instituto de Biología Molecular y Celular del Cáncer, Consejo Superior de Investigaciones Científicas (CSIC), Universidad de Salamanca, 37007, Salamanca, Spain. pedro.lazo@csic.es.; Instituto de Investigación Biomédica de Salamanca (IBSAL), Hospital Universitario de Salamanca, 37007, Salamanca, Spain. pedro.lazo@csic.es.
Publikováno v:
Journal of molecular medicine (Berlin, Germany) [J Mol Med (Berl)] 2024 Jun; Vol. 102 (6), pp. 801-817. Date of Electronic Publication: 2024 Mar 30.
Autor:
Ros-Pardo D; Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid (CSIC-UAM), C/Nicolás Cabrera, 1, 28049 Madrid, Spain., Gómez-Puertas P; Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid (CSIC-UAM), C/Nicolás Cabrera, 1, 28049 Madrid, Spain., Marcos-Alcalde Í; Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid (CSIC-UAM), C/Nicolás Cabrera, 1, 28049 Madrid, Spain.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Jan 20; Vol. 25 (2). Date of Electronic Publication: 2024 Jan 20.
Autor:
Colomo S; Biochemistry Department, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas 'Sols-Morreale' (IIBm-CISC), Madrid, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain., Ros-Pardo D; Grupo de modelado molecular, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Madrid, Spain., Oltra SS; Biochemistry Department, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas 'Sols-Morreale' (IIBm-CISC), Madrid, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain.; Laboratorio de Investigación Traslacional, Fundación MD Anderson Internacional (FMDA), Madrid, Spain., Gomez-Puertas P; Grupo de modelado molecular, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Madrid, Spain., Sarrio D; Biochemistry Department, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas 'Sols-Morreale' (IIBm-CISC), Madrid, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain., Moreno-Bueno G; Biochemistry Department, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas 'Sols-Morreale' (IIBm-CISC), Madrid, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain.; Laboratorio de Investigación Traslacional, Fundación MD Anderson Internacional (FMDA), Madrid, Spain.
Publikováno v:
Cell cycle (Georgetown, Tex.) [Cell Cycle] 2023 Oct; Vol. 22 (20), pp. 2346-2359. Date of Electronic Publication: 2023 Dec 15.
Autor:
Oltra SS; Fundación MD Anderson Internacional, Madrid, Spain.; Departamento de Bioquímica, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas 'Alberto Sols', Conexión Cáncer (UAM-CSIC), IdiPAZ, Madrid, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain., Colomo S; Departamento de Bioquímica, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas 'Alberto Sols', Conexión Cáncer (UAM-CSIC), IdiPAZ, Madrid, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain., Sin L; Fundación MD Anderson Internacional, Madrid, Spain.; Departamento de Bioquímica, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas 'Alberto Sols', Conexión Cáncer (UAM-CSIC), IdiPAZ, Madrid, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain., Pérez-López M; Departamento de Bioquímica, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas 'Alberto Sols', Conexión Cáncer (UAM-CSIC), IdiPAZ, Madrid, Spain., Lázaro S; Fundación MD Anderson Internacional, Madrid, Spain.; Departamento de Bioquímica, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas 'Alberto Sols', Conexión Cáncer (UAM-CSIC), IdiPAZ, Madrid, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain., Molina-Crespo A; Departamento de Bioquímica, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas 'Alberto Sols', Conexión Cáncer (UAM-CSIC), IdiPAZ, Madrid, Spain., Choi KH; Department of Surgery, The Ohio State University Wexner Medical Center Columbus, Columbus, OH, 43210, USA., Ros-Pardo D; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CBMSO Conexión Cáncer, (CSIC-UAM), Madrid, Spain., Martínez L; Departamento de Bioquímica, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas 'Alberto Sols', Conexión Cáncer (UAM-CSIC), IdiPAZ, Madrid, Spain., Morales S; Departamento de Bioquímica, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas 'Alberto Sols', Conexión Cáncer (UAM-CSIC), IdiPAZ, Madrid, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain., González-Paramos C; Departamento de Bioquímica, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas 'Alberto Sols', Conexión Cáncer (UAM-CSIC), IdiPAZ, Madrid, Spain., Orantes A; Centro Nacional de Biotecnología (CNB), UAM-CSIC, Madrid, Spain., Soriano M; Servicio de Microscopía Electrónica, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Hernández A; Servicio de Microscopía Óptica Avanzada, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain., Lluch A; GEICAM, Spanish Breast Cancer Group, Madrid, Spain.; Hospital Clínico Universitario de Valencia, Valencia, Spain.; Instituto de Investigación Sanitaria INCLIVA, Universidad de Valencia, Valencia, Spain., Rojo F; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain.; GEICAM, Spanish Breast Cancer Group, Madrid, Spain.; Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain., Albanell J; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain.; GEICAM, Spanish Breast Cancer Group, Madrid, Spain.; IMIM Hospital del Mar Medical Research Institute, Barcelona, Spain.; Medical Oncology Department Hospital del Mar, Barcelona, Barcelona, Spain.; Institut de Recerca Biomedica Barcelona, Barcelona, Spain., Gómez-Puertas P; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CBMSO Conexión Cáncer, (CSIC-UAM), Madrid, Spain., Ko JK; Department of Surgery, The Ohio State University Wexner Medical Center Columbus, Columbus, OH, 43210, USA., Sarrió D; Departamento de Bioquímica, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas 'Alberto Sols', Conexión Cáncer (UAM-CSIC), IdiPAZ, Madrid, Spain. dsarrio@iib.uam.es.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain. dsarrio@iib.uam.es., Moreno-Bueno G; Fundación MD Anderson Internacional, Madrid, Spain. gmoreno@iib.uam.es.; Departamento de Bioquímica, Universidad Autónoma de Madrid (UAM), Instituto de Investigaciones Biomédicas 'Alberto Sols', Conexión Cáncer (UAM-CSIC), IdiPAZ, Madrid, Spain. gmoreno@iib.uam.es.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain. gmoreno@iib.uam.es.
Publikováno v:
Cell death and differentiation [Cell Death Differ] 2023 May; Vol. 30 (5), pp. 1366-1381. Date of Electronic Publication: 2023 Mar 11.
Akademický článek
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Autor:
Lucia-Campos C; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain., Valenzuela I; Department of Clinical and Molecular Genetics Hospital Vall d'Hebron, E-08035 Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, E-08035 Barcelona, Spain., Latorre-Pellicer A; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain., Ros-Pardo D; Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Molecular Modeling Group, E-28049 Madrid, Spain., Gil-Salvador M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain., Arnedo M; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain., Puisac B; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain., Castells N; Department of Clinical and Molecular Genetics Hospital Vall d'Hebron, E-08035 Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, E-08035 Barcelona, Spain., Plaja A; Department of Clinical and Molecular Genetics Hospital Vall d'Hebron, E-08035 Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, E-08035 Barcelona, Spain., Tenes A; Department of Clinical and Molecular Genetics Hospital Vall d'Hebron, E-08035 Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, E-08035 Barcelona, Spain., Cuscó I; Department of Clinical and Molecular Genetics Hospital Vall d'Hebron, E-08035 Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, E-08035 Barcelona, Spain.; Department of Genetics, Hospital Sant Pau, E-08041 Barcelona, Spain., Trujillano L; Department of Clinical and Molecular Genetics Hospital Vall d'Hebron, E-08035 Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, E-08035 Barcelona, Spain., Ramos FJ; Unit of Clinical Genetics, Department of Paediatrics, Service of Paediatrics, Hospital Clínico Universitario Lozano Blesa, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain., Tizzano EF; Department of Clinical and Molecular Genetics Hospital Vall d'Hebron, E-08035 Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, E-08035 Barcelona, Spain., Gómez-Puertas P; Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Molecular Modeling Group, E-28049 Madrid, Spain., Pié J; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology, School of Medicine, Universidad de Zaragoza, CIBERER-GCV02 and IIS-Aragon, E-50009 Zaragoza, Spain.
Publikováno v:
Genes [Genes (Basel)] 2022 Aug 08; Vol. 13 (8). Date of Electronic Publication: 2022 Aug 08.
Autor:
Christensen MB; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Levy AM; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark., Mohammadi NA; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Kaiyrzhanov R; Department of Neuromuscular Disorders, University College London Institute of Neurology, London, UK., Dentici ML; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Al Alam C; Pediatric Neurology department, American center for Psychiatry and Neurology, Al Ain, United Arab Emirates.; Pediatric Neurology department, Haykel Hospital, El Koura, Lebanon., Alesi V; Translational Cytogenomics Research Unit, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Benoit V; IPG, Centre for Human Genetics, Charleroi, Belgium., Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Boßelmann CM; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Buratti J; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Ceulemans B; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Charles P; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France., De Wachter M; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Dehghani M; Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran., D'haenens E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Doco-Fenzy M; SFR CAP SANTE, HMB2 CHU Reims, Reims, France.; CHU de Nantes, service de génétique médicale, Nantes, France., Geßner M; KfH-Board of Trustees for Dialysis and Kidney Transplantation (KfH-Kuratorium für Dialyse und Nierentransplantation e.V.), Neu Isenburg, Germany., Gobert C; Neuropediatric department, Centre Hospitalier Neurologique William Lennox, Ottignies, Belgium., Guliyeva U; Department of Pediatrics, MediClub Hospital, Baku, Azerbaijan., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany., Hammer TB; Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark., Heinrich T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; MVZ Humangenetik und Molekularpathologie GmbH, Rostock, Germany., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hoffmann U; St. Franziskus-Hospital, Münster, Germany., Horvath J; Institute of Human Genetics, University of Münster, Münster, Germany., Houlden H; Department of Neuromuscular Disorders, University College London Institute of Neurology, London, UK., Keren B; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne Université, Paris, France., Kresge C; Department of Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey, USA., Kumps C; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Lederer D; IPG, Centre for Human Genetics, Charleroi, Belgium., Lermine A; LBBMS SeqOIA, AP-HP, Paris, France., Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK., Maroofian R; Department of Neuromuscular Disorders, University College London Institute of Neurology, London, UK., Vahidi Mehrjardi MY; Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran., Moudi M; Department of Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran., Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Oostra AJ; Neuropediatric department, Ghent University Hospital, Ghent, Belgium.; Centre for Developmental disorders, University Hospital Ghent, Ghent, Belgium., Pletcher BA; Department of Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey, USA., Ros-Pardo D; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Madrid, Spain., Samarasekera S; Neurology Department, Queen Elizabeth Hospital, Birmingham, UK., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Van Schil K; Department of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Vogt J; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK., Wassmer E; Neurology Department, Birmingham Women and Children's Hospital, Birmingham, UK.; Institute of Health and Neurodevelopment, Aston University, Birmingham, UK., Winkelmann J; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Genetics Department, Armed Forces College of Medicine (AFCM), Cairo, Egypt., Zech M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Lerche H; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Gomez-Puertas P; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa, CBMSO (CSIC-UAM), Madrid, Spain., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Publikováno v:
Clinical genetics [Clin Genet] 2022 Aug; Vol. 102 (2), pp. 98-109. Date of Electronic Publication: 2022 Jun 08.