Zobrazeno 1 - 5
of 5
pro vyhledávání: '"McDonnell, Pamela Pojomovsky"'
Autor:
Parthasarathy, Shridhar, Ruggiero, Sarah McKeown, Gelot, Antoinette, Soardi, Fernanda C, Ribeiro, Bethânia F R, Pires, Douglas E V, Ascher, David B, Schmitt, Alain, Rambaud, Caroline, Represa, Alfonso, Xie, Hongbo M, Lusk, Laina, Wilmarth, Olivia, McDonnell, Pamela Pojomovsky, Juarez, Olivia A, Grace, Alexandra N, Buratti, Julien, Mignot, Cyril, Gras, Domitille, Nava, Caroline, Pierce, Samuel R, Keren, Boris, Kennedy, Benjamin C, Pena, Sergio D J, Helbig, Ingo, Cuddapah, Vishnu Anand
Publikováno v:
In The American Journal of Human Genetics 1 December 2022 109(12):2253-2269
Akademický článek
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; UOC Genetica Medica, IRCCS Giannina Gaslini, Genoa, Italy., Bradley CA; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Program in Neurosciences and Mental Health, The Hospital for Sick Children and Department of Physiology, University of Toronto, Toronto, Ontario, Canada., Howe JL; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Trost B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Salazar NB; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Shum C; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Reuter MS; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., MacDonald JR; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Ko SY; Program in Neurosciences and Mental Health, The Hospital for Sick Children and Department of Physiology, University of Toronto, Toronto, Ontario, Canada., Frankland PW; Program in Neurosciences and Mental Health, The Hospital for Sick Children and Department of Physiology, University of Toronto, Toronto, Ontario, Canada.; Department of Psychology and Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada., Granger L; Department of Genetics and Metabolism, Randall Children's Hospital, Portland, OR 97227, USA., Anadiotis G; Department of Genetics and Metabolism, Randall Children's Hospital, Portland, OR 97227, USA., Pullano V; Department of Medical Sciences, University of Torino, Torino, Italy., Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, 10126 Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino, Italy., Keller R; Adult Autism Centre DSM ASL Città di Torino, 10138 Turin, Italy., Parisotto S; Center for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack, New Jersey, USA., Pedro HF; Center for Genetic and Genomic Medicine, Hackensack University Medical Center, Hackensack, New Jersey, USA., Lusk L; Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA., McDonnell PP; Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Helbig I; Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Mullegama SV; GeneDx, Gaithersburg, MD, USA., Douine ED; Department of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA, USA., Russell BE; Department of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA, USA., Nelson SF; Department of Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA, USA., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; UOC Genetica Medica, IRCCS Giannina Gaslini, Genoa, Italy., Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.; McLaughlin Centre, Toronto, ON M5G 0A4, Canada.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2023 Dec 27. Date of Electronic Publication: 2023 Dec 27.
Autor:
Kassabian B; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Neurology Unit, Department of Neuroscience, University of Padua, Padua, Italy., Fenger CD; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Amplexa Genetics, Odense, Denmark., Willems M; Département Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier Institute for Neurosciences of Montpellier, Univ Montpellier, INSERM, Montpellier, France., Aledo-Serrano A; Epilepsy and Neurogenetics Program-Vithas Madrid La Milagrosa University Hospital, Vithas Hospital Group, Madrid, Spain., Linnankivi T; Department of Pediatric Neurology, New Children's Hospital and Pediatric Research Center, Epilepsia Helsinki, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., McDonnell PP; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States.; Epilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Lusk L; Epilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Jepsen BS; Pediatric Department, Danish Epilepsy Center, Dianalund, Denmark., Bayat M; Department of Neurology and Center for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Kattentidt-Mouravieva AA; Stichting Zuidwester, Middelharnis, Netherlands., Vidal AA; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron and Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Valero-Lopez G; Neurology Department, Virgen de la Arrixaca University Hospital, Murcia, Spain., Alarcon-Martinez H; Department of Pediatric Neurology, Virgen de la Arrixaca University Hospital, Murcia, Spain., Goodspeed K; Department of Pediatrics, Division of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, United States.; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, United States., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, Netherlands., Møller RS; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Institute of Regional Health Research, University of Southern Denmark, Odense, Denmark., Johannesen KM; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark., Rubboli G; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Publikováno v:
Frontiers in neuroscience [Front Neurosci] 2023 Aug 11; Vol. 17, pp. 1270299. Date of Electronic Publication: 2023 Aug 11 (Print Publication: 2023).