Zobrazeno 1 - 10
of 656
pro vyhledávání: '"Scalais, E."'
Autor:
Kasriel E; Pediatric Neurology, Hôpital Civil Marie Curie, Charleroi, BEL., Boecher-Schwarz H; Neurosurgery, Centre Hospitalier de Luxembourg, Luxembourg City, LUX., Scalais E; Pediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg City, LUX.
Publikováno v:
Cureus [Cureus] 2024 Aug 22; Vol. 16 (8), pp. e67525. Date of Electronic Publication: 2024 Aug 22 (Print Publication: 2024).
Autor:
Ryckmans C; Department of Pediatrics, Division of Pediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg.; Department of Pediatrics, General Pediatric Service, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg., Donge M; Department of Pediatrics, Division of Pediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg., Marchèse A; Department of Pediatrics, Division of Pediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg., Mastouri M; Department of Pediatrics, General Pediatric Service, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg., Thomee C; Department of Pediatrics, General Pediatric Service, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg., Stouffs K; Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium., Lieser SL; General Pediatric Service, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg., Scalais E; Department of Pediatrics, Division of Pediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63510. Date of Electronic Publication: 2023 Dec 22.
Autor:
Franchino CA; Mitochondrial Dysfunctions in Neurodegeneration Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Brughera M; Mitochondrial Dysfunctions in Neurodegeneration Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Baderna V; Mitochondrial Dysfunctions in Neurodegeneration Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., De Ritis D; Mitochondrial Dysfunctions in Neurodegeneration Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Rocco A; Mitochondrial Dysfunctions in Neurodegeneration Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Seneca S; Medical Center of Genetic, UZ-VUB, Vrije Universiteit Brussels, 1090 Brussels Jette, Belgium., Regal L; Pediatric Neurology and Metabolism, UZ-VUB, Vrije Universiteit Brussels, 1090 Brussels Jette, Belgium., Podini P; Experimental Neuropathology Unit, Division of Neuroscience and Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., D'Antonio M; Biology of Myelin Unit, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Toro C; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Quattrini A; Experimental Neuropathology Unit, Division of Neuroscience and Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Scalais E; Department of Pediatric, Division of Pediatric Neurology, Centre Hospitalier de Luxembourg, L1210 Luxembourg, Luxembourg., Maltecca F; Mitochondrial Dysfunctions in Neurodegeneration Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132 Milan, Italy.; Università Vita-Salute San Raffaele, 20132 Milan, Italy.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Mar 01; Vol. 147 (3), pp. 1043-1056.
Autor:
Scalais E; Department of Pediatrics, Division of Pediatric Neurology, Centre Hospitalier de Luxembourg, Luxembourg. Electronic address: emmanuel.Scalais@gmail.com., Geron C; Department of Pediatrics, Neonatal Center, Pediatric Intensive Care, Centre Hospitalier de Luxembourg, Luxembourg., Pierron C; Department of Pediatrics, Neonatal Center, Pediatric Intensive Care, Centre Hospitalier de Luxembourg, Luxembourg., Cardillo S; Service d'Ophtalmologie, Centre Hospitalier de Luxembourg, Luxembourg., Schlesser V; Laboratoire de Chimie et Hématologie, Centre Hospitalier de Luxembourg, Luxembourg., Mataigne F; Service de Neuroradiologie, Centre Hospitalier de Luxembourg, Luxembourg., Borde P; Service de Biochimie, Laboratoire National de Santé, Dudelange, Luxembourg., Regal L; Pediatric Neurology and Metabolism, UZ, VUB, Vrije Universiteit Brussels, Brussels, Belgium.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2023 Nov; Vol. 140 (3), pp. 107681. Date of Electronic Publication: 2023 Aug 11.
Autor:
Cospain A; Service de Génétique Clinique, Centre de Référence CLAD-Ouest, ERN ITHACA, CHU, Rennes, France; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France. Electronic address: auriane.cospain@gmail.com., Rivera-Barahona A; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Instituto de Investigaciones Biomédicas Alberto Sols, CSIC-Universidad Autónoma de Madrid, Madrid, Spain., Dumontet E; Laboratoire d'Immunologie - Thérapie Cellulaire et Hématopoïèse, CHU, Rennes, France., Gener B; Department of Genetics, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, Barakaldo, Spain., Bailleul-Forestier I; Department of Pediatric Dentistry, Competence Center of Rare Oral Diseases, Faculty of Odontology, Paul Sabatier University, CHU, Toulouse, France., Meyts I; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium; Department of Paediatrics, University Hospitals Leuven, Leuven, Belgium., Jouret G; National Center of Genetics (NCG), Laboratoire National de Santé (LNS), Dudelange, Luxemburg., Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes, France., Brewer C; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Wuyts W; Department of Medical Genetics, University of Antwerp and University Hospital of Antwerp, Edegem, Belgium., Moens L; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium., Delafontaine S; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium; Department of Paediatrics, University Hospitals Leuven, Leuven, Belgium., Keung Lam WW; South East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, United Kingdom., Van Den Bogaert K; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Boogaerts A; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Scalais E; Department of Pediatric Neurology, Centre Hospitalier de Luxembourg, Luxemburg., Besnard T; Service de Génétique Médicale, CHU de Nantes, Nantes, France., Cogne B; Service de Génétique Médicale, CHU de Nantes, Nantes, France; Institut du Thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France., Guissard C; RESTORE Research Center, Université de Toulouse, INSERM 1301, CNRS 5070, EFS, ENVT, Toulouse, France., Rollier P; Service de Génétique Clinique, Centre de Référence CLAD-Ouest, ERN ITHACA, CHU, Rennes, France; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France., Carre W; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France., Bouvet R; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France., Tarte K; Laboratoire d'Immunologie - Thérapie Cellulaire et Hématopoïèse, CHU, Rennes, France., Gómez-Carmona R; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Instituto de Investigaciones Biomédicas Alberto Sols, CSIC-Universidad Autónoma de Madrid, Madrid, Spain., Lapunzina P; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain., Odent S; Service de Génétique Clinique, Centre de Référence CLAD-Ouest, ERN ITHACA, CHU, Rennes, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France., Faoucher M; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France., Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France., Ruiz-Pérez VL; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Instituto de Investigaciones Biomédicas Alberto Sols, CSIC-Universidad Autónoma de Madrid, Madrid, Spain., Devriendt K; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Pasquier L; Service de Génétique Clinique, Centre Référence Déficiences des Intellectuelles de Cause Rares, CHU, Rennes, France., Pérez-Jurado LA; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Servicio de Genética, Hospital del Mar Research Institute (IMIM), Barcelona, Spain; Department of Medicine and Life Sciences, Universitat Pompeu Fabra, Barcelona, Spain. Electronic address: luis.perez@upf.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Dec; Vol. 24 (12), pp. 2475-2486. Date of Electronic Publication: 2022 Oct 04.
Autor:
Johannesen KM; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, 5230 Odense, Denmark., Liu Y; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Koko M; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Gjerulfsen CE; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark., Sonnenberg L; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany., Schubert J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Fenger CD; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark., Eltokhi A; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Rannap M; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Koch NA; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany., Lauxmann S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany.; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany., Krüger J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Kegele J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Canafoglia L; Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologio Carlo Besta, 20125 Milan, Italy., Franceschetti S; Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologio Carlo Besta, 20125 Milan, Italy., Mayer T; Epilepsy Center Kleinwachau, 01454 Dresden-Radeberg, Germany., Rebstock J; Epilepsy Center Kleinwachau, 01454 Dresden-Radeberg, Germany., Zacher P; Epilepsy Center Kleinwachau, 01454 Dresden-Radeberg, Germany., Ruf S; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, 72072 Tuebingen, Germany., Alber M; Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital, 72072 Tuebingen, Germany., Sterbova K; Department of Child Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 10000 Prague, Czech Republic., Lassuthová P; Department of Child Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 10000 Prague, Czech Republic., Vlckova M; Department of Child Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, 10000 Prague, Czech Republic., Lemke JR; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany., Krey I; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany., Heine C; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany., Wieczorek D; Institute of Human Genetics, University Clinic, Heinrich-Heine-University, 40210 Düsseldorf, Germany., Kroell-Seger J; Children's Department, Swiss Epilepsy Centre, Clinic Lengg, 8001 Zurich, Switzerland., Lund C; National Centre for Rare Epilepsy-Related Disorders, Oslo University Hospital, 0001 Oslo, Norway., Klein KM; Departments of Clinical Neurosciences, Medical Genetics and Community Health Sciences, Hotchkiss Brain Institute and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2P 0A1, Canada., Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, University of Calgary, AB T6G 2T4, Canada., Rho JM; Section of Pediatric Neurology, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, AB T2P 0A1, Canada., Ho AW; Section of Pediatric Neurology, Alberta Children's Hospital, Cumming School of Medicine, University of Calgary, Calgary, AB T2P 0A1, Canada., Masnada S; Department of Child Neurology, V. Buzzi Children's Hospital, 20125 Milan, Italy., Veggiotti P; Department of Child Neurology, V. Buzzi Children's Hospital, 20125 Milan, Italy.; 'L. Sacco' Department of Biomedical and Clinical Sciences, University of Milan, 20157 Milan, Italy., Giordano L; Child Neuropsychiatric Unit, Civilian Hospital, 25100 Brescia, Italy., Accorsi P; Child Neuropsychiatric Unit, Civilian Hospital, 25100 Brescia, Italy., Hoei-Hansen CE; Department of Pediatrics, Copenhagen University Hospital Rigshospitalet, 2200 Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16121 Genova, Italy.; IRCCS 'G. Gaslini' Institute, 16121 Genoa, Italy., Zara F; IRCCS 'G. Gaslini' Institute, 16121 Genoa, Italy., Verhelst H; Department of Pediatrics, Division of Pediatric Neurology, Gent University Hospital, 9042 Gent, Belgium., Verhoeven JS; Academic Center for Epileptology, Kempenhaeghe/Maastricht University Medical Center, 5591 Heeze, The Netherlands., Braakman HMH; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, 6525 Nijmegen, The Netherlands., van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3553 Utrecht, The Netherlands., Harder AVE; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3553 Utrecht, The Netherlands., Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3553 Utrecht, The Netherlands., Pendziwiat M; Department of Neuropediatrics, Universitätsklinikum Schleswig Holstein Campus Kiel, 24106 Kiel, Germany., Lebon S; Pediatric Neurology and Neurorehabilitation Unit, Woman Mother Child Department, Lausanne University Hospital (CHUV), 1000 Lausanne, Switzerland.; University of Lausanne, 1000 Lausanne, Switzerland., Vaccarezza M; Department of Pediatric Neurology, Hospital Italiano de Buenos Aires, C1428 Buenos Aires, Argentina., Le NM; Center for Pediatric Neurology, Cleveland Clinic, Cleveland, OH 44102, USA., Christensen J; Department of Neurology, Aarhus University Hospital, 8000 Aarhus, Denmark., Grønborg S; Center for Rare Diseases, Department of Pediatrics and Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2200 Copenhagen, Denmark., Scherer SW; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON 66777, Canada.; The Centre for Applied Genomics and Department of Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON 66777, Canada., Howe J; Department of Neuropediatrics, University Hospital Bonn, 53229 Bonn, Germany., Fazeli W; Institute for Molecular and Behavioral Neuroscience, University of Cologne, 50667 Cologne, Germany.; Neurology Department, The Royal Children's Hospital Melbourne, 3002 Melbourne, Australia., Howell KB; Neurology Department, The Royal Children's Hospital Melbourne, 3002 Melbourne, Australia.; Murdoch Children's Research Institute, 3052 Parkville, Australia.; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, 3052 Parkville, Australia., Leventer R; Neurology Department, The Royal Children's Hospital Melbourne, 3002 Melbourne, Australia.; Murdoch Children's Research Institute, 3052 Parkville, Australia.; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, 3052 Parkville, Australia., Stutterd C; Murdoch Children's Research Institute, 3052 Parkville, Australia.; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, 3052 Parkville, Australia., Walsh S; Department of Neuropediatrics, Children's Hospital, University Hospital Carl Gustav Carus, Technical University, 1099 Dresden, Germany., Gerard M; Genetics Department, CHU Côte de Nacre, 14118 Caen, France., Gerard B; Genetics Department, CHRU Strasbourg, 67000 Strasbourg, France., Matricardi S; Child Neurology and Psychiatry Unit, Children's Hospital G. Salesi, 60121 Ancona, Italy., Bonardi CM; Department of Woman's and Child's Health, Padova University Hospital, 35100 Padova, Italy., Sartori S; Child Neurology and Clinical Neurophysiology Unit, Padova University Hospital, 35100 Padova, Italy., Berger A; Department of Neuropediatrics, Klinikum Weiden, Kliniken Nordoberpfalz AG, 92637 Weiden, Germany., Hoffman-Zacharska D; Department of Medical Genetics, Institute of Mother and Child, 00-034 Warsaw, Poland., Mastrangelo M; Pediatric Neurology Unit, Vittore Buzzi Hospital, ASST Fatebenefratelli Sacco, 20100 Milan, Italy., Darra F; Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, 37121 Verona, Italy., Vøllo A; Department of Pediatrics, Oestfold Hospital, 1712 Graalum, Norway., Motazacker MM; Laboratory of Genome Diagnostics, Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, 1019 Amsterdam, Netherlands., Lakeman P; Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, 1019 Amsterdam, Netherlands., Nizon M; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France., Betzler C; Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik, 83569 Vogtareuth, Germany.; Research Institute 'Rehabilitation, Transition, Palliation', PMU Salzburg, 5020 Salzburg, Austria., Altuzarra C; Department of Pediatrics, St. Jacques Hospital, 25000 Besançon, France., Caume R; Clinique de Génétique Guy Fontaine, CHU Lille, 59000, Lille, France., Roubertie A; Département de Neuropédiatrie, INSERM, CHU Montpellier, 34000 Montpellier, France., Gélisse P; Département de Neuropédiatrie, INSERM, CHU Montpellier, 34000 Montpellier, France., Marini C; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50131 Florence, Italy., Guerrini R; IRCCS Stella Maris, 56121 Pisa, Italy., Bilan F; Service de Génétique, Centre Hospitalier Universitaire de Poitiers, 86021 Poitiers, France., Tibussek D; Child Neurology, Center for Pediatric and Teenage Health Care, 53757 Sankt Augustin, Germany., Koch-Hogrebe M; Vestische Kinder- und Jugendklinik, 45711 Datteln, Germany., Perry MS; Justin Neurosciences Center, Cook Children's Medical Center, Fort Worth, TX 76101, USA., Ichikawa S; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, CA 92637, USA., Dadali E; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, 125412 Moscow, Russia., Sharkov A; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, 125412 Moscow, Russia.; Genomed Ltd., 100000 Moscow, Russia., Mishina I; Research Centre for Medical Genetics, 115522 Moscow, Russia., Abramov M; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, 125412 Moscow, Russia., Kanivets I; Svt. Luka's Institute of Child Neurology & Epilepsy, 100000 Moscow, Russia.; Russian Medical Academy of Continuous Professional Education, 100000 Moscow, Russia., Korostelev S; Svt. Luka's Institute of Child Neurology & Epilepsy, 100000 Moscow, Russia.; I.M. Sechenov First Moscow State Medical University, 100000 Moscow, Russia., Kutsev S; Research Centre for Medical Genetics, 115522 Moscow, Russia., Wain KE; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA 17837, USA., Eisenhauer N; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA 17837, USA., Wagner M; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA 17837, USA., Savatt JM; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA 17837, USA., Müller-Schlüter K; Epilepsy Center for Children, University Hospital Neuruppin, Brandenburg Medical School, 16816 Neuruppin, Germany., Bassan H; Pediatric Neurology & Development Center, Shamir Medical Center (Assaf Harofe), Be'er Ya'akov, Israel.; Sackler Faculty of Medicine, Tel Aviv University, 5296001 Tel Aviv, Israel., Borovikov A; Research Centre for Medical Genetics, 115522 Moscow, Russia., Nassogne MC; Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, 1000 Brussels, Belgium., Destrée A; Institute for Pathology and Genetics, 6040 Gosselies, Belgium., Schoonjans AS; Department of Pediatrics and Pediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Meuwissen M; Pediatric Neurology, Marie Curie Hospital-CHU Charleroi, 6032 Charleroi, Belgium., Buzatu M; Pediatric Neurology, Marie Curie Hospital-CHU Charleroi, 6032 Charleroi, Belgium., Jansen A; Pediatric Neurology Unit, Department of Pediatrics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, 1050 Brussels, Belgium., Scalais E; Pediatric Neurology Unit, Department of Pediatrics, Centre Hospitalier de Luxembourg, 1313 Luxembourg, Luxembourg., Srivastava S; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02108, USA., Tan WH; Department of Genetics, Boston Children's Hospital, Boston, MA 02108, USA., Olson HE; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02108, USA.; Epilepsy Genetics Program, Boston Children's Hospital, Boston, MA 02108, USA., Loddenkemper T; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02108, USA., Poduri A; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02108, USA.; Epilepsy Genetics Program, Boston Children's Hospital, Boston, MA 02108, USA., Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy Neurogenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy Neurogenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19104USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104USA.; Institute of Clinical Molecular Biology, Kiel University, 24105 Kiel, Germany.; Department of Neuropediatrics, Kiel University, 24105 Kiel, Germany., Fitzgerald MP; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy Neurogenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19104USA.; Institute of Clinical Molecular Biology, Kiel University, 24105 Kiel, Germany., Goldberg EM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; The Epilepsy Neurogenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Roser T; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Haunersches Children's Hospital, Ludwig-Maximilian-University of Munich, 80331 Munich, Germany., Borggraefe I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Haunersches Children's Hospital, Ludwig-Maximilian-University of Munich, 80331 Munich, Germany.; Comprehensive Epilepsy Center, Ludwig-Maximilian- University of Munich, 80331 Munich, Germany., Brünger T; Luxembourg Centre for Systems Biomedicine (LCSB), University Luxembourg, L-4243 Esch-sur-Alzette, Luxembourg., May P; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44102, USA., Lal D; Luxembourg Centre for Systems Biomedicine (LCSB), University Luxembourg, L-4243 Esch-sur-Alzette, Luxembourg.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44102, USA.; Stanley Center for Psychiatric Research, Broad Institute of Harvard and M.I.T ., Cambridge, MA 02138, USA.; Cologne Center for Genomics (CCG), University of Cologne, 50667 Cologne, Germany., Lederer D; Institute for Pathology and Genetics, 6040 Gosselies, Belgium., Rubboli G; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; University of Copenhagen, 2200 Copenhagen, Denmark., Heyne HO; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, 4275 Leipzig, Germany.; Finnish Institute for Molecular Medicine (FIMM), University of Helsinki, 320 Helsinki, Finland.; Program for Medical and Population Genetics/Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02138, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02108, USA., Lesca G; Department of Medical Genetics, Groupement Hospitalier Est and ERN EpiCARE, University Hospitals of Lyon (HCL), 69001 Lyon, France.; Institut Neuromyogène, CNRS UMR 5310 - INSERM U1217, Université de Lyon, Université Claude Bernard Lyon 1, 69001 Lyon, France., Hedrich UBS; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Benda J; Institute for Neurobiology, University of Tuebingen, 72072 Tuebingen, Germany., Gardella E; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, 5230 Odense, Denmark., Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72072 Tuebingen, Germany., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, 5230 Odense, Denmark.
Publikováno v:
Brain : a journal of neurology [Brain] 2022 Sep 14; Vol. 145 (9), pp. 2991-3009.
Autor:
Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr., Zhang J; Hatherly Laboratories, The Institute of Biomedical and Clinical Sciences, College of Medicine and Health, University of Exeter, Exeter, United Kingdom; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT; State Key Laboratory of Bio-Organic and Natural Products Chemistry, Research Center of Chemical Kinomics, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, Shanghai, China., Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Caro-Llopis A; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Zeng X; Department of Genetics, Yale School of Medicine, Yale University, New Haven, CT., Robert SM; Department of Genetics, Yale School of Medicine, Yale University, New Haven, CT., Josiah SS; Hatherly Laboratories, The Institute of Biomedical and Clinical Sciences, College of Medicine and Health, University of Exeter, Exeter, United Kingdom., Kiziltug E; Department of Genetics, Yale School of Medicine, Yale University, New Haven, CT., Denommé-Pichon AS; Département de Biochimie et Génétique, Centre Hospitalier Universitaire Angers, Angers, France; UMR CNRS 6214, INSERM 1083, Université d'Angers, Angers, France., Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Kundishora AJ; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT., Hao LT; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT., Li H; Departments of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA., Stevenson RE; Greenwood Genetic Center, Greenwood, SC., Louie RJ; Greenwood Genetic Center, Greenwood, SC., Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Torti E; GeneDx, Gaithersburg, MD., Vignard V; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., McWalter K; GeneDx, Gaithersburg, MD., Raymond FL; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Biomedical Campus Cambridge, Cambridge, United Kingdom., Rajabi F; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Grozeva D; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Biomedical Campus Cambridge, Cambridge, United Kingdom; Centre for Trials Research, Cardiff University, Cardiff, United Kingdom., Coury SA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Blanc X; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Brischoux-Boucher E; Centre de Génétique Humaine, CHU de Besançon, Université de Bourgogne Franche-Comté, Besançon, France., Keren B; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia., Reinson K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia., Ilves P; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Radiology, Tartu University Hospital, Tartu, Estonia., Wentzensen IM; GeneDx, Gaithersburg, MD., Barr EE; Departments of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA., Guihard SH; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; Groupe de Recherche Clinique, Déficience Intellectuelle et Autisme, Sorbonne University, Paris, France., Charles P; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Seaby EG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Genomic Informatics Group, University of Southampton, Southampton, United Kingdom., Monaghan KG; GeneDx, Gaithersburg, MD., Rio M; Developmental Brain Disorders laboratory, INSERM UMR 1163, Imagine Institute, University of Paris, Paris, France; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Necker Enfants Malades Hospital, APHP, Paris, France., van Bever Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Chung WK; Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, Columbia University New York, NY., Wilson A; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, NY., Quinquis D; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France., Bréhéret F; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France., Retterer K; GeneDx, Gaithersburg, MD., Lindenbaum P; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Scalais E; Division of Pediatric Neurology, Department of Pediatrics, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg., Rhodes L; GeneDx, Gaithersburg, MD., Stouffs K; Neurogenetics Research Group, Reproduction and Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Laarbeeklaan, Brussels, Belgium., Pereira EM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, NY., Berger SM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, NY., Milla SS; Department of Radiology and Imaging Sciences, School of Medicine, Emory University, Atlanta, GA., Jaykumar AB; Department of Pharmacology, UT Southwestern Medical Center, Dallas, TX., Cobb MH; Department of Pharmacology, UT Southwestern Medical Center, Dallas, TX., Panchagnula S; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Duy PQ; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT., Vincent M; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Gilbert-Dussardier B; Service de Génétique, CHU Poitiers, Poitiers, France., Le Guillou X; Service de Génétique, CHU Poitiers, Poitiers, France., Audebert-Bellanger S; Génétique Médicale, CHRU Brest, Brest, France., Odent S; Service de Génétique Clinique, ERN ITHACA, CHU Rennes, Rennes, France; Institut de Génétique et Développement de Rennes, IGDR UMR 6290 CNRS, INSERM, IGDR Univ Rennes, Rennes, France., Schmitt S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France., Boisseau P; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France., Bonneau D; Département de Biochimie et Génétique, Centre Hospitalier Universitaire Angers, Angers, France; UMR CNRS 6214, INSERM 1083, Université d'Angers, Angers, France., Toutain A; Unité de Génétique Médicale, Centre Hospitalier Régional Universitaire de Tours, France; Unité Mixte de Recherche 1253, iBrain, Université de Tours, Institut National de la Santé et de la Recherche Médicale, Tours, France., Colin E; Département de Biochimie et Génétique, Centre Hospitalier Universitaire Angers, Angers, France; UMR CNRS 6214, INSERM 1083, Université d'Angers, Angers, France., Pasquier L; Service de Génétique Clinique, ERN ITHACA, CHU Rennes, Rennes, France; Institut de Génétique et Développement de Rennes, IGDR UMR 6290 CNRS, INSERM, IGDR Univ Rennes, Rennes, France., Redon R; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Friez MJ; Greenwood Genetic Center, Greenwood, SC., Pérez-Peña H; Department of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, University College London, London, United Kingdom., Akhtar Rizvi SR; Department of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, University College London, London, United Kingdom., Haider S; Department of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, University College London, London, United Kingdom; Centre for Advanced Research Computing, University College London, London, United Kingdom., Antonarakis SE; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland; iGE3, Institute of Genetics and Genomics of Geneva, University of Geneva, Geneva, Switzerland., Schwartz CE; Greenwood Genetic Center, Greenwood, SC., Martínez F; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Kahle KT; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT; Department of Cellular and Molecular Physiology, Yale School of Medicine, Yale University, New Haven, CT; NIH-Yale Centers for Mendelian Genomics, Yale School of Medicine, Yale University, New Haven, CT; Yale Stem Cell Center, Yale School of Medicine, Yale University, New Haven, CT. Electronic address: kahle.kristopher@mgh.harvard.edu., Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Sep; Vol. 24 (9), pp. 1941-1951. Date of Electronic Publication: 2022 Jun 09.
Autor:
Blondel F; Pediatrics, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg., Pierron C; Neonatology and Intensive Care, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg., Scalais E; Pediatric neurology, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg., Becker M; Pediatric endocrinology and diabetology, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg becker.marianne@chl.lu.
Publikováno v:
BMJ case reports [BMJ Case Rep] 2022 Aug 03; Vol. 15 (8). Date of Electronic Publication: 2022 Aug 03.
Autor:
Jouret G; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Heide S; Service de Génétique Cytogénétique, Embryologie Hôpital Pitié-Salpétrière, France., Sorlin A; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg.; Centre de Génétique, CHU de Dijon, Dijon, France.; Génétique des Anomalies du Développement, Inserm 1231 GAD, Université de Bourgogne, France., Faivre L; Centre de Génétique, CHU de Dijon, Dijon, France.; Génétique des Anomalies du Développement, Inserm 1231 GAD, Université de Bourgogne, France., Chantot-Bastaraud S; Service de Génétique Et Embryologie Médicales, CHU Paris Est, Hôpital d'Enfants Armand-Trousseau, France., Beneteau C; Service de Génétique Médicale, CHU de Nantes, Institut de Biologie, France., Denis-Musquer M; Service d'Anatomie et Cytologie Pathologiques, Hôpital-Dieu, Nantes, France., Turnpenny PD; Clinical Genetics Department, Royal Devon and Exeter Hospital, UK., Coutton C; Service de Génétique Médicale, Grenoble, France., Vieville G; Service de Génétique Médicale, Grenoble, France., Thevenon J; Service de Génétique Médicale, Grenoble, France., Larson A; Clinical Genetics Department, Children's Hospital Colorado, Littleton, Colorado, USA., Petit F; Clinique de Génétique 'Guy Fontaine', CHU de Lille, France., Boudry E; Institut de Génétique Médicale, CHU de Lille, France., Smol T; Institut de Génétique Médicale, CHU de Lille, France., Delobel B; Centre de Génétique Chromosomique, GH de l'Institut, Catholique de Lille, France., Duban-Bedu B; Centre de Génétique Chromosomique, GH de l'Institut, Catholique de Lille, France., Fallerini C; Medical Genetics Department, University of Siena, Siena, Italy., Mari F; Medical Genetics Department, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Lo Rizzo C; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Renieri A; Medical Genetics Department, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Caberg JH; Centre de Génétique Humaine, CHU de Liège, Liège, Belgium., Denommé-Pichon AS; Centre de Génétique, CHU de Dijon, Dijon, France.; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, Dijon, France., Tran Mau-Them F; Centre de Génétique, CHU de Dijon, Dijon, France.; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, Dijon, France., Maystadt I; Centre de Genetique Humaine, Institut de Pathologie et de Genetique, Charleroi, Belgium., Courtin T; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France., Keren B; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France., Mouthon L; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France., Charles P; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France., Cuinat S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, France., Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, France., Theis P; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Müller C; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Kulisic M; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Türkmen S; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Stieber D; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Bourgeois D; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg., Scalais E; Pediatric Neurology Unit, Pediatric Department, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg., Klink B; Laboratoire national de santé (LNS), National Center of Genetics (NCG), Dudelange, Luxembourg.
Publikováno v:
Clinical genetics [Clin Genet] 2022 Aug; Vol. 102 (2), pp. 117-122. Date of Electronic Publication: 2022 Apr 25.