Zobrazeno 1 - 10
of 507
pro vyhledávání: '"Schuermans N"'
Autor:
Denomme-Pichon A. -S., Bruel A. -L., Duffourd Y., Safraou H., Thauvin-Robinet C., Tran Mau-Them F., Philippe C., Vitobello A., Jean-Marcais N., Moutton S., Thevenon J., Faivre L., Matalonga L., de Boer E., Gilissen C., Hoischen A., Kleefstra T., Pfundt R., de Vries B. B. A., Willemsen M. H., Vissers L. E. L. M., Jackson A., Banka S., Clayton-Smith J., Benetti E., Fallerini C., Renieri A., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Ellwanger K., Graessner H., Haack T. B., Zurek B., Havlovicova M., Macek M., Ryba L., Schwarz M., Votypka P., Lopez-Martin E., Posada M., Mencarelli M. A., Rooryck C., Trimouille A., Verloes A., Abbott K. M., Kerstjens M., Martin E. L., Maystadt I., Morleo M., Nigro V., Pinelli M., Riess O., Agathe J. -M. D. S., Santen G. W. E., Thauvin C., Torella A., Vissers L., Zguro K., Boer E. D., Cohen E., Danis D., Gao F., Horvath R., Johari M., Johanson L., Li S., Morsy H., Nelson I., Paramonov I., te Paske I. B. A. W., Robinson P., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vandrovcova J., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Xu J., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Lerche H., Kegele J., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., 't Hoen P. A. C., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Maddi V., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Manera J. D., Hambleton S., Engelhardt K., Alexander E., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Fernandez-Callejo M., Hernandez C., Pico D., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Lagorce D., Hongnat O., Chahdil M., Lebreton E., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Ben Yaou R., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Liskova P., Dolezalova P., Parkinson H., Keane T., Freeberg M., Thomas C., Spalding D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Efthymiou S., Cali E., Magrinelli F., Sisodiya S. M., Rohrer J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., de Vries G., De Winter J., Beijer D., de Jonghe P., Van de Vondel L., De Ridder W., Weckhuysen S., Mutarelli M., Varavallo A., Banfi S., Musacchia F., Piluso G., Ferlini A., Selvatici R., Gualandi F., Bigoni S., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Ruvolo D., Kerstjens Frederikse W. S., Zonneveld-Huijssoon E., Roelofs-Prins D., van Gijn M., Kohler S., Metcalfe A., Drunat S., Heron D., Mignot C., Keren B., Lacombe D., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Cilio M. -R., Carpancea E., Depondt C., Lederer D., Sznajer Y., Duerinckx S., Mary S., Macaya A., Cazurro-Gutierrez A., Perez-Duenas B., Munell F., Jarava C. F., Maso L. B., Marce-Grau A., Colobran R., Hackman P., Udd B., Hemelsoet D., Dermaut B., Schuermans N., Poppe B., Verdin H., Osorio A. N., Depienne C., Roos A., Cordts I., Deschauer M., Striano P., Zara F., Riva A., Iacomino M., Uva P., Scala M., Scudieri P., Basak A. N., Claeys K., Boztug K., Haimel M., W. E G., Ruivenkamp C. A. L., Natera de Benito D., Thompson R., Polavarapu K., Grimbacher B., Zaganas I., Kokosali E., Lambros M., Evangeliou A., Spilioti M., Kapaki E., Bourbouli M., Balicza P., Molnar M. J., De la Paz M. P., Sanchez E. B., Delgado B. M., Alonso Garcia de la Rosa F. J., Schrock E., Rump A., Mei D., Vetro A., Balestrini S., Guerrini R., Chinnery P. F., Ratnaike T., Schon K., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., May P., Beeson D., Cossins J., Furini S., Afenjar A., Goldenberg A., Masurel A., Phan A., Dieux-Coeslier A., Fargeot A., Guerrot A. -M., Toutain A., Molin A., Sorlin A., Putoux A., Jouret B., Laudier B., Demeer B., Doray B., Bonniaud B., Isidor B., Gilbert-Dussardier B., Leheup B., Reversade B., Paul C., Vincent-Delorme C., Neiva C., Poirsier C., Quelin C., Chiaverini C., Coubes C., Francannet C., Colson C., Desplantes C., Wells C., Goizet C., Sanlaville D., Amram D., Lehalle D., Genevieve D., Gaillard D., Zivi E., Sarrazin E., Steichen E., Schaefer E., Lacaze E., Jacquemin E., Bongers E., Kilic E., Colin E., Giuliano F., Prieur F., Laffargue F., Morice-Picard F., Petit F., Cartault F., Feillet F., Baujat G., Morin G., Diene G., Journel H., Perthus I., Lespinasse J., Alessandri J. -L., Amiel J., Martinovic J., Delanne J., Albuisson J., Lambert L., Perrin L., Ousager L. B., Van Maldergem L., Pinson L., Ruaud L., Samimi M., Bournez M., Bonnet-Dupeyron M. N., Vincent M., Jacquemont M. -L., Cordier-Alex M. -P., Gerard-Blanluet M., Willems M., Spodenkiewicz M., Doco-Fenzy M., Rossi M., Renaud M., Fradin M., Mathieu M., Holder-Espinasse M. H., Houcinat N., Hanna N., Leperrier N., Chassaing N., Philip N., Boute O., Van Kien P. K., Parent P., Bitoun P., Sarda P., Vabres P., Jouk P. -S., Touraine R., El Chehadeh S., Whalen S., Marlin S., Passemard S., Grotto S., Bellanger S. A., Blesson S., Nambot S., Naudion S., Lyonnet S., Odent S., Attie-Bitach T., Busa T., Drouin-Garraud V., Layet V., Bizaoui V., Cusin V., Capri Y., Alembik Y.
Publikováno v:
Genetics in Medicine, 25
GENETICS IN MEDICINE
Solve-RD DITF-ITHACA 2023, ' A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, pp. 100018 . https://doi.org/10.1016/j.gim.2023.100018
Genetics in Medicine, 25, 4
GENETICS IN MEDICINE
Solve-RD DITF-ITHACA 2023, ' A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, pp. 100018 . https://doi.org/10.1016/j.gim.2023.100018
Genetics in Medicine, 25, 4
Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on Clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595c5dc88c1376b42f99283c2dea407e
https://doi.org/10.1016/j.gim.2023.100018
https://doi.org/10.1016/j.gim.2023.100018
Autor:
Van den Broecke A; Department of Neurology, Ghent University Hospital, Ghent, Belgium. astrid.vandenbroecke@uzgent.be., Decruyenaere A; Department of Medical Oncology, Ghent University Hospital, Ghent, Belgium., Schuermans N; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Verdin H; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Ghijsels J; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Sieben A; Born-Bunge Institute, Laboratory for Neuropathology, University of Antwerp, Antwerp, Belgium., Dermaut B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Hemelsoet D; Department of Neurology, Ghent University Hospital, Ghent, Belgium.
Publikováno v:
Journal of neurology [J Neurol] 2024 Jan; Vol. 271 (1), pp. 263-273. Date of Electronic Publication: 2023 Sep 09.
Autor:
Poggio E; Department of Biology, University of Padua, Padua, Italy., Barazzuol L; Department of Biomedical Sciences, University of Padua, Padua, Italy., Salmaso A; Department of Biology, University of Padua, Padua, Italy., Milani C; Department of Biology, University of Padua, Padua, Italy., Deligiannopoulou A; Department of Biomedical Sciences, University of Padua, Padua, Italy., Cazorla ÁG; European Reference Network for Hereditary Metabolic Diseases (MetabERN), Madrid, Spain; Neurometabolic Unit and Synaptic Metabolism Laboratory, Neurology Department Sant Joan de Déu Hospital, IPR, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Jang SS; Seoul National University (SNU) College of Medicine, Seoul, South Korea., Juliá-Palacios N; Neurology Department, Neurometabolic Unit, Institut de Recerca, CIBERER and MetabERN, Hospital Sant Joan de Déu, Barcelona, Spain., Keren B; APHP.Sorbonne Université, Department of Medical Genetics, Pitié-Salpêtrière University Hospital, and Centre de Référence Maladies Rares Déficiences Intellectuelles de Causes Rares, Paris, France., Kopajtich R; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Lynch SA; Department of Clinical Genetics, Temple Street Children's University Hospital, Dublin, Ireland., Mignot C; APHP.Sorbonne Université, Department of Medical Genetics, Pitié-Salpêtrière University Hospital, and Centre de Référence Maladies Rares Déficiences Intellectuelles de Causes Rares, Paris, France., Moorwood C; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Neuhofer C; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Nigro V; Department of Precision Medicine, University of Campania, Luigi Vanvitelli, Napoli, Italy., Oostra A; Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium., Prokisch H; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Saillour V; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France., Schuermans N; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium; Department of Biomolecular Medicine, Ghent University Hospital, Ghent, Belgium., Torella A; Department of Precision Medicine, University of Campania, Luigi Vanvitelli, Napoli, Italy., Verloo P; Department of Pediatric Neurology, Center for Inherited Metabolic Disorders and metabERN, University Hospital Ghent, Ghent, Belgium., Yazbeck E; Pediatric Neurology Department, Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires Paris Saclay, Bicêtre Hospital, Le Kremlin Bicêtre, France., Zollino M; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Jech R; Department of Neurology, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic., Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany., Necpal J; 2nd Department of Neurology, Faculty of Medicine, Comenius University, Bratislava, Slovakia; Department of Neurology, Zvolen Hospital, Zvolen, Slovakia., Calì T; Department of Biomedical Sciences, University of Padua, Padua, Italy; Centro Studi per la Neurodegenerazione (CESNE), University of Padua, Padua, Italy; Neuroscience Center (PNC), University of Padua, Padua, Italy., Brini M; Department of Biology, University of Padua, Padua, Italy; Centro Studi per la Neurodegenerazione (CESNE), University of Padua, Padua, Italy., Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany; Institute for Advanced Study, Technical University of Munich, Garching, Germany. Electronic address: michael.zech@mri.tum.de.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Dec; Vol. 25 (12), pp. 100971. Date of Electronic Publication: 2023 Sep 04.
Autor:
Schuermans N; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., El Chehadeh S; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Strasbourg, France.; Laboratoire de Génétique Médicale, UMRS_1112, Institut de Génétique Médicale d'Alsace (IGMA), Université de Strasbourg et INSERM, Strasbourg, France., Hemelsoet D; Department of Neurology, Ghent University Hospital, Ghent, Belgium., Gautheron J; Sorbonne Université, INSERM UMRS_938, Centre de Recherche Saint-Antoine (CRSA), Paris, France., Vantyghem MC; Endocrinology, Diabetology, Metabolism Department, National Competence Centre for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Lille University Hospital, Lille, France.; University of Lille, INSERM U1190, European Genomic Institute for Diabetes, Lille, France., Nouioua S; Department of Neurology of the EHS of Cherchell, University Centre of Blida, Tipaza, Algeria.; NeuroSciences Research Laboratory, University of Algiers Benyoucef Benkhedda, Algiers, Algeria., Tazir M; NeuroSciences Research Laboratory, University of Algiers Benyoucef Benkhedda, Algiers, Algeria.; Department of Neurology, CHU Algiers (Mustapha Pacha Hospital), Algiers, Algeria., Vigouroux C; Sorbonne Université, INSERM UMRS_938, Centre de Recherche Saint-Antoine (CRSA), Paris, France.; Assistance Publique-Hôpitaux de Paris, Saint-Antoine University Hospital, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, Diabetology and Reproductive Endocrinology, and Department of Molecular Biology and Genetics, Paris, France., Auclair M; Sorbonne Université, INSERM UMRS_938, Centre de Recherche Saint-Antoine (CRSA), Paris, France.; Assistance Publique-Hôpitaux de Paris, Saint-Antoine University Hospital, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Department of Endocrinology, Diabetology and Reproductive Endocrinology, and Department of Molecular Biology and Genetics, Paris, France., Bogaert E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Dufour S; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; VIB-UGent Center for Medical Biotechnology, VIB, Ghent, Belgium.; VIB Proteomics Core, VIB, Ghent, Belgium., Okawa F; Department of Biochemistry and Molecular Biology, Graduate School and Faculty of Medicine, The University of Tokyo, Bunkyo, Japan., Hilbert P; Department of Molecular and Cellular Biology, Institute of Pathology and Genetics, Charleroi, Belgium., Van Doninck N; Department of Endocrinology and Diabetology, General Hospital VITAZ, Sint-Niklaas, Belgium., Taquet MC; Department of Internal Medicine and Nutrition, Hopitaux Universitaires Strasbourg, Strasbourg, France., Rosseel T; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., De Clercq G; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Debackere E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Van Haverbeke C; Department of Pathology, Ghent University Hospital, Ghent, Belgium., Cherif FR; Department of Neurology of the EHS of Cherchell, University Centre of Blida, Tipaza, Algeria.; NeuroSciences Research Laboratory, University of Algiers Benyoucef Benkhedda, Algiers, Algeria., Urtizberea JA; Institut de Myologie, Paris, France., Chanson JB; Service de Neurologie et Centre de Référence Neuromusculaire Nord/Est/Ile de France, Hôpital de Hautepierre, Strasbourg, France., Funalot B; Department of Medical Genetics, Hôpital Henri Mondor, Université Paris-Est-Créteil, Créteil, France.; INSERM UMR955, Team Relaix, Faculty of Medicine, Créteil, France., Authier FJ; INSERM UMR955, Team Relaix, Faculty of Medicine, Créteil, France.; Centre Expert de Pathologie Neuromusculaire/Histologie, Département de Pathologie, Hôpital Henri Mondor, Université Paris-Est-Créteil, Créteil, France., Kaya S; Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany., Terryn W; Department of Nephrology, Jan Yperman Hospital, Ieper, Belgium., Callens S; Department of General Internal Medicine, Ghent University Hospital, Ghent, Belgium., Depypere B; Department of Plastic and Reconstructive Surgery, Ghent University Hospital, Ghent, Belgium., Van Dorpe J; Department of Pathology, Ghent University Hospital, Ghent, Belgium., Poppe B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Impens F; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; VIB-UGent Center for Medical Biotechnology, VIB, Ghent, Belgium.; VIB Proteomics Core, VIB, Ghent, Belgium., Mizushima N; Department of Biochemistry and Molecular Biology, Graduate School and Faculty of Medicine, The University of Tokyo, Bunkyo, Japan., Depienne C; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Strasbourg, France.; Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany., Jéru I; Sorbonne Université, INSERM UMRS_938, Centre de Recherche Saint-Antoine (CRSA), Paris, France.; Department of Medical Genetics, DMU BioGeM, Sorbonne Université, AP-HP, Pitié-Salpêtrière Hospital, Paris, France., Dermaut B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. bart.dermaut@ugent.be.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium. bart.dermaut@ugent.be.
Publikováno v:
Nature genetics [Nat Genet] 2023 Nov; Vol. 55 (11), pp. 1929-1940. Date of Electronic Publication: 2023 Nov 02.
Autor:
Ervilha Pereira P; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Schuermans N; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Meylemans A; Department of Neurology, Ghent University Hospital, Ghent, Belgium.; Department of Head and Skin, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., LeBlanc P; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Versluys L; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Copley KE; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.; Neuroscience Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA., Rubien JD; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA., Altheimer C; Department of Neurology, University of Michigan, Ann Arbor, MI, 48109, USA., Peetermans M; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Debackere E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Vanakker O; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Janssens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Baets J; Department of Neurology, Neuromuscular Reference Centre, Antwerp University Hospital, Antwerp, Belgium.; Faculty of Medicine and Health Sciences, Translational Neurosciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., Verhoeven K; Department of Neurology, Ghent University Hospital, Ghent, Belgium.; Department of Neurology, Sint-Jan Hospital Bruges, Brugge, Belgium., Lammens M; Department of Pathology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Symoens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., De Paepe B; Department of Neurology, Ghent University Hospital, Ghent, Belgium.; Department of Head and Skin, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Barmada SJ; Department of Neurology, University of Michigan, Ann Arbor, MI, 48109, USA., Shorter J; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.; Neuroscience Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA., De Bleecker JL; Department of Neurology, Ghent University Hospital, Ghent, Belgium.; Department of Head and Skin, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Bogaert E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. elke.bogaert@ugent.be.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium. elke.bogaert@ugent.be., Dermaut B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. bart.dermaut@ugent.be.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium. bart.dermaut@ugent.be.
Publikováno v:
Acta neuropathologica [Acta Neuropathol] 2023 Jun; Vol. 145 (6), pp. 793-814. Date of Electronic Publication: 2023 Mar 31.
Autor:
Schuermans N; Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium., Verdin H; Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium., Ghijsels J; Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium., Hellemans M; Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium., Debackere E; Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium., Bogaert E; Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium., Symoens S; Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium., Naesens L; Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium., Lecomte E; Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium., Crosiers D; Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium., Bergmans B; Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium., Verhoeven K; Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium., Poppe B; Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium., Laureys G; Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium., Herdewyn S; Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium., Van Langenhove T; Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium., Santens P; Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium., De Bleecker JL; Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium., Hemelsoet D; Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium., Dermaut B; Center for Medical Genetics (N.S., H.V., J.G., E.D., E.B., S.S., B.P., B.D.), Ghent University Hospital; Department of Biomolecular Medicine (N.S., H.V., J.G., M.H., E.D., E.B., S.S., B.P., B.D.), Faculty of Medicine and Health Sciences, Ghent University; Department of Internal Medicine and Pediatrics (L.N.), Ghent University; Primary Immunodeficiency Research Lab (L.N.), Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital; Department of Neurology (E.L.), O.L.V. Lourdes Hospital, Waregem; Department of Neurology (D.C.), Antwerp University Hospital UZA; Translational Neurosciences (D.C.), Faculty of Medicine and Health Sciences, University of Antwerp; Department of Neurology (B.B., K.V.), AZ Sint-Jan, Bruges; and Department of Neurology (B.B., G.L., S.H., T.V.L., P.S., J.L.D.B., D.H.), Ghent University Hospital, Belgium.
Publikováno v:
Neurology. Genetics [Neurol Genet] 2023 Apr 26; Vol. 9 (3), pp. e200071. Date of Electronic Publication: 2023 Apr 26 (Print Publication: 2023).
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Santens P; Department of Neurology, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium. Electronic address: patrick.santens@ugent.be., Bruggeman A; Department of Neurology, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium., Schuermans N; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Corneel Heymanslaan 10, 9000, Ghent, Belgium; Center for Medical Genetics, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium., Verdin H; Center for Medical Genetics, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium., Dermaut B; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Corneel Heymanslaan 10, 9000, Ghent, Belgium; Center for Medical Genetics, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2022 Dec; Vol. 65 (12), pp. 104625. Date of Electronic Publication: 2022 Oct 10.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Schuermans N; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. nika.schuermans@ugent.be.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium. nika.schuermans@ugent.be., Hemelsoet D; Department of Neurology, Ghent University Hospital, Ghent, Belgium., Terryn W; Department of Nephrology, Jan Yperman Hospital, Ieper, Belgium., Steyaert S; Department of General Internal Medicine, Ghent University Hospital, Ghent, Belgium., Van Coster R; Department of Pediatrics, Division of Pediatric Neurology and Metabolic Diseases, Ghent University Hospital, Ghent, Belgium., Coucke PJ; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Steyaert W; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Bogaert E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Verloo P; Department of Pediatrics, Division of Pediatric Neurology and Metabolic Diseases, Ghent University Hospital, Ghent, Belgium., Vanlander AV; Department of Pediatrics, Division of Pediatric Neurology and Metabolic Diseases, Ghent University Hospital, Ghent, Belgium., Debackere E; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Ghijsels J; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., LeBlanc P; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Verdin H; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Naesens L; Department of Internal Medicine and Pediatrics, Ghent University Hospital, Ghent, Belgium.; Primary Immunodeficiency Research Lab, Center for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital, Ghent, Belgium., Haerynck F; Department of Internal Medicine and Pediatrics, Ghent University Hospital, Ghent, Belgium., Callens S; Department of General Internal Medicine, Ghent University Hospital, Ghent, Belgium., Dermaut B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Poppe B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 May 23; Vol. 17 (1), pp. 210. Date of Electronic Publication: 2022 May 23.