Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Pyb, Au"'
Autor:
Pavinato, L, Howe, Jl, Carli, D, Agolini, E, Coviello, Da, Van de Laar, Imbh, Pyb, Au, Di Gregorio, E, Giorgio, E, Pozzi, E, Ferrero, M, Cardaropoli, S, Delle Vedove, A, Salpietro, V, Zara, F, Novelli, A, Wirth, B, Ferrero, Gb, Scherer, Sw, Brusco, A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______970::16d472b9c274e8e06427b08038958d93
http://hdl.handle.net/2318/1796686
http://hdl.handle.net/2318/1796686
Autor:
Peron A; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA. angela.peron@unifi.it.; Medical Genetics, ASST Santi Paolo e Carlo, San Paolo Hospital, Milano, Italy. angela.peron@unifi.it.; Department of Experimental and Clinical Biomedical Sciences, Università degli Studi di Firenze, Firenze, Italy. angela.peron@unifi.it.; Medical Genetics, Meyer Children's Hospital IRCCS, Firenze, Italy. angela.peron@unifi.it., D'Arco F; Department of Radiology, Great Ormond Street Hospital for Children, London, UK., Aldinger KA; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Smith-Hicks C; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Gradek GA; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Bradbury K; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Wessex Regional Genetics Service, Princess Anne Hospital, Southampton, UK., Accogli A; Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genova, Italy., Andersen EF; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, UT, USA.; Department of Pathology, University of Utah, Salt Lake City, UT, USA., Au PYB; Department of Pediatrics, Division of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Battini R; IRCCS Fondazione Stella Maris, Pisa, Italy.; Dipartimento di Medicina Clinica e Sperimentale, University of Pisa, Pisa, Italy., Beleford D; Division of Medical Genetics, Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, CA, USA.; Department of Pediatrics and Physiology & Membrane Biology, University of California, Davis, CA, USA., Bird LM; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA, USA., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Bruel AL; INSERM UMR 1231 Equipe GAD, Université de Bourgogne, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710, Skien, Norway., Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada., Capra V; Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy., Carlston C; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Carmichael J; Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK., Chassevent A; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Clayton-Smith J; Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Bamshad MJ; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.; University of Washington, Seattle, WA, USA., Earl DL; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.; University of Washington, Seattle, WA, USA., Faivre L; INSERM UMR 1231 Equipe GAD, Université de Bourgogne, Dijon, France.; Centre de Référence Maladies Rares Anomalies du développement et syndromes malformatifs, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Philippe C; INSERM UMR 1231 Equipe GAD, Université de Bourgogne, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Ferreira P; Department of Pediatrics, Division of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Graul-Neumann L; Universitätsmedizin Berlin, Institut für Medizinische Genetik und Humangenetik, Berlin, Germany., Green MJ; Experimental Histopathology Laboratory, The Francis Crick Institute, London, UK., Haffner D; Department of Pediatrics, Division of Pediatric Neurology, Nationwide Children's Hospital and Ohio State University, Columbus, OH, USA., Haldipur P; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Hanna S; Department of Pediatric Immunology, Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel., Houge G; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Jones WD; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK., Kraus C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Kristiansen BE; Department of Neurohabilitation, Oslo University Hospital, Oslo, Norway., Lespinasse J; HDR - Service de Génétique Médicale, Centre Hospitalier Métropole Savoie, Chambery, France., Low KJ; Clinical Genetics Service, University Hospitals Bristol and Weston NHS trust, Bristol, UK., Lynch SA; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland., Maia S; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar Universidade de Coimbra, Coimbra, Portugal., Mao R; Department of Pathology, University of Utah, Salt Lake City, UT, USA., Kalinauskiene R; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK., Melver C; Division of Medical Genetics, Akron Children's Hospital, Akron, OH, USA., McDonald K; University of Mississippi Medical Center, Jackson, MS, USA., Montgomery T; Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne NHS Foundation Trust, Newcastle, UK., Morleo M; Telethon Institute of Genetics and Medicine, Pozzuoli, Napoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Napoli, Italy., Motter C; Division of Medical Genetics, Akron Children's Hospital, Akron, OH, USA., Openshaw AS; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, UT, USA., Palumbos JC; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Parikh AS; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, USA., Perilla-Young Y; Division of Pediatric Genetics and Metabolism, University of North Carolina, Chapel Hill, NC, USA., Powell CM; Division of Pediatric Genetics and Metabolism, University of North Carolina, Chapel Hill, NC, USA., Person R; GeneDx, Gaithersburg, MD, USA., Desai M; GeneDx, Gaithersburg, MD, USA., Piard J; Centre de Génétique Humaine, Université de Franche-Comté, CHU, Besançon, France., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Scala M; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy., Serey-Gaut M; Centre de Génétique Humaine, Université de Franche-Comté, CHU, Besançon, France.; Centre de Recherche en Audiologie, Hôpital Necker, AP-HP. CUP, Paris, France., Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Slavotinek A; Division of Medical Genetics, Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, CA, USA.; Division of Human Genetics, Cincinnati Children's Hospital, and Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA., Suri M; Nottingham Clinical Genetics Service; Nottingham University Hospitals NHS Trust, Nottingham, UK., Turner C; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Tvrdik T; Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA, USA., Weiss K; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.; Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Wentzensen IM; GeneDx, Gaithersburg, MD, USA., Zollino M; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica Sacro Cuore, Roma, Italy.; Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Guillemot F; Neural Stem Cell Biology Laboratory, The Francis Crick Institute, London, UK., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Viskochil D; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Dias C; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK. cristina.dias@kcl.ac.uk.; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK. cristina.dias@kcl.ac.uk.; Neural Stem Cell Biology Laboratory, The Francis Crick Institute, London, UK. cristina.dias@kcl.ac.uk.; Department of Medical & Molecular Genetics, School of Basic and Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London, London, UK. cristina.dias@kcl.ac.uk.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Oct 24. Date of Electronic Publication: 2024 Oct 24.
Autor:
Smith CS; Alberta Children's Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Riddell M; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Badalato L; Department of Pediatrics, Queen's University, Kingston, Ontario, Canada., Au PYB; Alberta Children's Hospital Research Institute, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63625. Date of Electronic Publication: 2024 May 13.
Autor:
Gillesse E; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada., Wade A; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Pediatrics, University of Calgary, Calgary, Canada.; Department of Cell Biology and Anatomy, University of Calgary, Calgary, Canada., Parboosingh JS; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada., Au PYB; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Department of Pediatrics, University of Calgary, Calgary, Canada., Bernier FP; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Department of Pediatrics, University of Calgary, Calgary, Canada., Lamont RE; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada., Innes AM; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Department of Pediatrics, University of Calgary, Calgary, Canada.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Nov; Vol. 194 (11), pp. e63789. Date of Electronic Publication: 2024 Jun 25.
Autor:
Colijn MA; Department of Psychiatry, University of Calgary, Calgary, AB, Canada. mark.colijn2@ucalgary.ca.; Mathison Centre for Mental Health Research and Education, University of Calgary, Calgary, AB, Canada. mark.colijn2@ucalgary.ca.; Hotchkiss Brain Institute, University of Calgary, Calgary, AB, Canada. mark.colijn2@ucalgary.ca., Vrijsen S; Laboratory of Cellular Transport Systems, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, B-3000, Belgium.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network , Chevy Chase, MD, 20815, USA., Au PYB; Department of Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada., Abou El Asrar R; Laboratory of Cellular Transport Systems, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, B-3000, Belgium.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network , Chevy Chase, MD, 20815, USA., Houdou M; Laboratory of Cellular Transport Systems, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, B-3000, Belgium.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network , Chevy Chase, MD, 20815, USA., Van den Haute C; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network , Chevy Chase, MD, 20815, USA.; Leuven Viral Vector Core KU Leuven, Leuven, B-3000, Belgium.; Research Group for Neurobiology and Gene Therapy, Department of Neurosciences, KU Leuven, Leuven, B-3000, Belgium., Sarna J; Hotchkiss Brain Institute, University of Calgary, Calgary, AB, Canada.; Department of Clinical Neurosciences, University of Calgary, Calgary, AB, Canada., Montgomery G; Department of Psychiatry, University of Calgary, Calgary, AB, Canada., Vangheluwe P; Laboratory of Cellular Transport Systems, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, B-3000, Belgium.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network , Chevy Chase, MD, 20815, USA.
Publikováno v:
Neurogenetics [Neurogenetics] 2024 Jul 18. Date of Electronic Publication: 2024 Jul 18.
Autor:
Rinaldi B; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Bayat A; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense 5230Denmark., Zachariassen LG; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Sun JH; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing 210032, China.; Zhejiang Key Laboratory of Organ Development and Regeneration, College of Life and Environmental Sciences, Hangzhou Normal University, Hangzhou 310030, China., Ge YH; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing 210032, China.; Ministry of Education Key Laboratory of Model Animal for Disease Study, National Resource Center for Mutant Mice, Jiangsu Key Laboratory of Molecular Medicine, Medical School, Nanjing University, Nanjing 210032, China., Zhao D; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Bonde K; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Madsen LH; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Awad IAA; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Bagiran D; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Sbeih A; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Shah SM; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., El-Sayed S; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Lyngby SM; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Pedersen MG; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Stenum-Berg C; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Walker LC; Department of Chemistry and Biomolecular Sciences, University of Ottawa, Ottawa K1H 8M5, Canada., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany., Delahaye-Duriez A; Unité fonctionnelle de médecine génomique et génétique clinique, Hôpital Jean Verdier, Assistance Publique des Hôpitaux de Paris, Bondy 93140, France.; NeuroDiderot, UMR 1141, Inserm, Université Paris Cité, Paris 75019, France.; UFR SMBH, Université Sorbonne Paris Nord, Bobigny 93000, France., Emrick LT; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Sully K; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA., Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Plaud Gonzalez JA; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA., Parnes M; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.; Pediatric Movement Disorders Clinic, Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA., Friedman J; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Department of Neurosciences, University of California San Diego, San Diego, CA 92123, USA.; Department of Pediatrics, University of California San Diego, San Diego, CA 92123, USA., Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France., Lefranc J; Pediatric Neurophysiology Department, CHU de Brest, Brest 29200, France., Redon S; Service de Génétique Médicale, CHU de Brest, Brest 29200, France.; Université de Brest, CHU de Brest, UMR 1078, Brest F29200, France., Heron D; APHP Sorbonne Université, Département de Génétique, Hôpital Armand Trousseau and Groupe Hospitalier Pitié-Salpêtrière, Paris 75013, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris 75013, France., Mignot C; APHP Sorbonne Université, Département de Génétique, Hôpital Armand Trousseau and Groupe Hospitalier Pitié-Salpêtrière, Paris 75013, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris 75013, France., Keren B; Genetic Department, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, Paris 75013, France., Fradin M; Service de Génétique Médicale, Hôpital Sud, CHU de Rennes, Rennes 35200, France., Dubourg C; Service de Génétique Moléculaire et Génomique, CHU de Rennes, Rennes 35200, France.; Université de Rennes, CNRS, Institut de Genetique et Developpement de Rennes, UMR 6290, Rennes 35200, France., Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France., Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France., Cogne B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France., Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France., Rivier C; Department of Paediatrics, Villefranche-sur-Saône Hospital, Villefranche-sur-Saône 69655, France., Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Bedeschi MF; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Di Napoli C; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Grilli F; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Marchisio P; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Pediatria Pneumoinfettivologia, Milan 20122, Italy.; University of Milan, Milan 20122, Italy., Koudijs S; Department of Neurology, ENCORE, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam 3015, The Netherlands., Veenma D; Department of Pediatrics, ENCORE, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam 3015, The Netherlands., Argilli E; Institute of Human Genetics, University of California, San Francisco, CA 94143, USA.; Department of Neurology, Weill Institute for Neurosciences, University of California, San Francisco, CA 94143, USA., Lynch SA; Department of Clinical Genetics, Children's Health Ireland Crumlin, Dublin D12 N512, Ireland., Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada., Ayala Valenzuela FE; Hospital Angeles Tijuana, Tijuana 22010, Mexico., Brown C; Illumina Inc, San Diego, CA 92122, USA., Masser-Frye D; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA 92123, USA., Jones M; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA 92123, USA., Patron Romero L; Facultad de Medicina y Psicología, Universidad Autónoma de Baja California, Tijuana 22010, Mexico., Li WL; Breakthrough Genomics Inc, Irvine, CA 92618, USA., Thorpe E; Illumina Inc, San Diego, CA 92122, USA., Hecher L; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany., Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany., McNiven V; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada.; Fred A Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, ON M5G 2C4, Canada., Szuto A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1E8, Canada., Wakeling E; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Cruz V; DDC Clinic Center for Special Needs Children, Middlefield, OH 44062, USA., Sency V; DDC Clinic Center for Special Needs Children, Middlefield, OH 44062, USA., Wang H; DDC Clinic Center for Special Needs Children, Middlefield, OH 44062, USA., Piard J; Centre de Génétique Humaine, Centre Hospitalier Universitaire, Université de Franche-Comté, Besançon 25000, France.; UMR 1231 GAD, Inserm, Université de Bourgogne Franche-Comté, Dijon 21000, France., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Condell A; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia., Ben-Zeev B; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan 52621, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv 4R73+8Q, Israel., Kaur S; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.; Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria 3052, Australia., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.; Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria 3052, Australia.; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales 2050, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NewSouth Wales 2050, Australia., Piton A; Hôpitaux Universitaires de Strasbourg, Laboratoire de Diagnostic Génétique, Strasbourg 67000, France., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany.; Department of Human Genetics, Inselspital Bern, University of Bern, Bern 3010, Switzerland., Kraus C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany., Micalizzi A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy., Trivisano M; Neurology, Epilepsy and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome 00165, Italy., Specchio N; Neurology, Epilepsy and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome 00165, Italy., Lesca G; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon 69100, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, Lyon 69100, France., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense 5230Denmark., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen 2100, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2100, Denmark., Musgaard M; Department of Chemistry and Biomolecular Sciences, University of Ottawa, Ottawa K1H 8M5, Canada., Gerard B; Laboratoires de diagnostic genetique, Institut de genetique Medicale d'Alsace, Hopitaux Universitaires de Strasbourg, Strasbourg 67000, France., Lemke JR; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig 04103, Germany., Shi YS; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing 210032, China.; Ministry of Education Key Laboratory of Model Animal for Disease Study, National Resource Center for Mutant Mice, Jiangsu Key Laboratory of Molecular Medicine, Medical School, Nanjing University, Nanjing 210032, China.; Guangdong Institute of Intelligence Science and Technology, Zhuhai 519031, China., Kristensen AS; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 May 03; Vol. 147 (5), pp. 1837-1855.
Autor:
Vanden Broek K; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Ryu JR; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.; Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, Alberta, Canada., Perrier R; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada., Tyndall AV; Alberta Children's Hospital Research Institute, Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada., Childs SJ; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.; Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, Alberta, Canada., Au PYB; Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Alberta Children's Hospital Research Institute, Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Apr; Vol. 105 (4), pp. 386-396. Date of Electronic Publication: 2023 Dec 27.
Autor:
Al-Kateb H; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Au PYB; University of Calgary, Alberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada., Berland S; Department of medical genetics, Haukeland University Hospital, Bergen, Norway., Cogne B; Centre Hospitalier Universitaire de Nantes, Service de G'en'etique M'edicale, Nantes, France., Demurger F; Service de Génétique, Vannes, France., Fluss J; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland., Isidor B; Centre Hospitalier Universitaire de Nantes, Service de G'en'etique M'edicale, Nantes, France., Frank LM; Division of Neurology, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Varvagiannis K; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland., Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., McDonald M; Duke University Medical Center, Durham, North Carolina, USA., Montgomery S; Duke University Medical Center, Durham, North Carolina, USA., Moortgat S; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium., Deprez M; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium., Karadurmus D; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium., Paulsen J; Department of medical genetics, Haukeland University Hospital, Bergen, Norway., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Rieger M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Willing M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, Missouri, USA., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, Missouri, USA.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Mar; Vol. 105 (3), pp. 294-301. Date of Electronic Publication: 2023 Dec 03.
Autor:
Accogli A; Division of Medical Genetics, Department of Specialized Medicine, McGill University, Montreal H3G 1A4, Canada.; Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Al-Owain M; Department of Medical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Otaif MY; Department of Pediatric, Neurology Section, Abha Maternity and Childern Hospital, Abha 62521, Saudi Arabia., Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester M13 9WL, UK., Argilli E; Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA., Chandler KE; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester M13 9WL, UK., De Goede CGEL; Department of Paediatric Neurology, Clinical Research Facility, Lancashire Teaching Hospital NHS Trust, Preston PR2 9HT, UK., Cora T; Department of Medical Genetics, Selcuk University School of Medicine, Konya 42100, Turkey., Alvi JR; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital, Lahore 54590, Pakistan., Eslahi A; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 917794-8564, Iran.; Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 9137-86177, Iran., Asl Mohajeri MS; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 917794-8564, Iran., Ashtiani S; Alberta Children's Hospital Research Institute, Department of Medical Genetics, University of Calgary, Alberta T2N 4Z6, Canada., Au PYB; Alberta Children's Hospital Research Institute, Department of Medical Genetics, University of Calgary, Alberta T2N 4Z6, Canada., Scocchia A; Blueprint Genetics Inc, Marlborough, MA 01752, USA., Alakurtti K; Blueprint Genetics Inc, Marlborough, MA 01752, USA., Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Toosi MB; Pediatric Neurology Department, Mashhad University of Medical Sciences, Mashhad 913791-6847, Iran.; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad 91375-33116, Iran., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad 91869-51591, Iran., Mojarrad M; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 917794-8564, Iran.; Student Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 9137-86177, Iran.; Genetic Center of Khorasan Razavi, Mashhad 91877-53831, Iran., Arab F; Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran 1411713135, Iran., Duymuş F; Department of Medical Genetics, Selcuk University School of Medicine, Konya 42100, Turkey.; Department of Medical Genetics, Konya City Hospital, Konya 42020, Turkey., Scantlebury MH; Departments of Pediatrics and Clinical Neuroscience, University of Calgary; Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute & Owerko Center, University of Calgary, Alberta T2N 4N1, Canada., Yeşil G; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul 34093, Turkey., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Baylor Genetics Laboratories, Houston, TX 77021, USA., Türkyılmaz A; Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon 61080, Turkey., Sağer SG; Clinics of Pediatric Neurology, Kartal Dr. Lütfi Kırdar City Hospital, İstanbul 34890, Turkey., Sultan T; Department of Pediatric Neurology, Institute of Child Health, Children's Hospital, Lahore 54590, Pakistan., Ashrafzadeh F; Pediatric Neurology Department, Mashhad University of Medical Sciences, Mashhad 913791-6847, Iran., Zahra T; Department of Developmental-Behavioral Pediatrics, University of Child Health Sciences, The Children's Hospital, Lahore 54590, Pakistan., Rahman F; Department of Developmental-Behavioral Pediatrics, University of Child Health Sciences, The Children's Hospital, Lahore 54590, Pakistan., Maqbool S; Department of Developmental-Behavioral Pediatrics, University of Child Health Sciences, The Children's Hospital, Lahore 54590, Pakistan., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt., Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Bauer P; CENTOGENE, Rostock 18057, Germany., Zifarelli G; CENTOGENE, Rostock 18057, Germany., Salpietro V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila 67100, Italy., Al-Hassnan Z; Department of Medical Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester M13 9WL, UK., Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA., Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego 92123, USA., Striano P; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa 16132, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', Genoa 16147, Italy., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa 16146, Italy., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Publikováno v:
Brain communications [Brain Commun] 2023 Aug 17; Vol. 5 (5), pp. fcad222. Date of Electronic Publication: 2023 Aug 17 (Print Publication: 2023).
Autor:
Pijpers JA; Departments of Neurology and Clinical Neurophysiology, Leiden University Medical Center, PO Box 9600, Leiden 2300 RC, the Netherlands. Electronic address: j.a.pijpers@lumc.nl., Au PYB; Departments of Medical Genetics, Cumming School of Medicine, University of Calgary, Canada., Weeke LC; Departments of Neonatology, Erasmus Medical Center, the Netherlands., Vein AA; Departments of Neurology and Clinical Neurophysiology, Leiden University Medical Center, PO Box 9600, Leiden 2300 RC, the Netherlands., Smit LS; Departments of Neonatology, Erasmus Medical Center, the Netherlands; Departments of Neurology, Erasmus Medical Center, the Netherlands., Vilan A; Department of Neonatology, Centro Hospitalar Universitário São João, Faculty of Medicine, University of Porto, Portugal., Jacobs E; Departments of Neurology, Erasmus Medical Center, the Netherlands., de Vries LS; Departments of Neonatology, Leiden University Medical Center, the Netherlands., Steggerda SJ; Departments of Neonatology, Leiden University Medical Center, the Netherlands., Cilio MR; Division of Pediatric Neurology, Department of Pediatrics, Catholic University of Louvain, Brussels, Belgium., Carapancea E; Division of Pediatric Neurology, Department of Pediatrics, Catholic University of Louvain, Brussels, Belgium., Cornet MC; Division of Neonatology, Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, CA, USA., Appendino JP; Departments of Pediatric Neurology, Cumming School of Medicine, University of Calgary, Canada., Peeters-Scholte CMPCD; Departments of Neurology and Clinical Neurophysiology, Leiden University Medical Center, PO Box 9600, Leiden 2300 RC, the Netherlands.
Publikováno v:
Seizure [Seizure] 2023 Aug; Vol. 110, pp. 212-219. Date of Electronic Publication: 2023 Jun 22.