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1
المؤلفون: Sophie Calvert, Richard Webster, Heather E. Olson, Simone Mandelstam, Mark T Mackay, Ingrid E. Scheffer, Annapurna Poduri, Katherine B. Howell, Gemma L. Carvill, Dimira Tambunan, Victoria Rodriguez-Casero, A. Simon Harvey, Jeremy L. Freeman, Damian Clark, Jacinta M McMahon, Heather C Mefford
المصدر: Neurology. 85:958-966
مصطلحات موضوعية: Male, Phenytoin, Pediatrics, medicine.medical_specialty, Ohtahara syndrome, Movement disorders, Adolescent, Encephalopathy, Article, Young Adult, Epilepsy, Sodium channel blocker, Dravet syndrome, Seizures, medicine, Humans, Genetic Predisposition to Disease, Ictal, Child, Brain Diseases, NAV1.2 Voltage-Gated Sodium Channel, business.industry, Infant, Electroencephalography, medicine.disease, Phenotype, Child, Preschool, Anesthesia, Mutation, Female, Epilepsies, Partial, Neurology (clinical), medicine.symptom, business, Spasms, Infantile, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e39af59041d5871d87918b6d8ff2b7caTest
https://doi.org/10.1212/wnl.0000000000001926Test -
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المؤلفون: Michael Hayman, Andrew J. Kornberg, Trent Burgess, Katherine B. Howell, Kevin Collins, Damian Clark, George McGillivray, Richard J. Leventer, Tyson L Ware, Howard R. Slater, Mark T Mackay, Ahmad Rithauddin Mohamed, M Victoria Rodriguez Casero, D L Bruno, Jeremy L. Freeman, A. Simon Harvey, Monique M. Ryan
المصدر: Journal of Paediatrics and Child Health. 49:716-724
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Microcephaly, Pathology, Ataxia, Movement disorders, Microarray, business.industry, medicine.disease, Epilepsy, Pediatrics, Perinatology and Child Health, medicine, Etiology, Autism, medicine.symptom, Prospective cohort study, business, health care economics and organizations
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5bb4f76eb4fd8f6fd2ba28ff39e42262Test
https://doi.org/10.1111/jpc.12256Test -
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المؤلفون: Sue Brown, S. Yu, Suzanna C. Thompson, Christopher Barnett, Eric Haan, Jan Liebelt, Lesley M McGregor, Elizabeth Thompson, Kathryn Friend, Sharon M. Bain, Jillian Nicholl, Wendy Waters, Shanna Suwalski, Yvonne Hull, Damian Clark, Claire Pridmore, John Entwistle, Michael G. Harbord, John C. Mulley
المصدر: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 162:24-35
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Genetic Counseling, Young Adult, Cellular and Molecular Neuroscience, Epilepsy, Chromosome Duplication, mental disorders, Intellectual disability, Humans, Medicine, Genetic Predisposition to Disease, Clinical significance, Copy-number variation, Patient group, Child, Genetics (clinical), Cognitive deficit, Aged, Genetics, Comparative Genomic Hybridization, Incidental Findings, business.industry, Infant, Middle Aged, medicine.disease, Psychiatry and Mental health, Child Development Disorders, Pervasive, Child, Preschool, Autism, Female, Chromosome Deletion, medicine.symptom, Cognition Disorders, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef8c1ac52a6209262e39f35833184568Test
https://doi.org/10.1002/ajmg.b.32114Test -
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المؤلفون: Kate Riney, Damian Clark
المصدر: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 23
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Population, Poison control, Autopsy, Status epilepticus, 030204 cardiovascular system & hematology, Occupational safety and health, 03 medical and health sciences, Epilepsy, Death, Sudden, 0302 clinical medicine, Seizures, Physiology (medical), Injury prevention, medicine, Humans, education, Aged, education.field_of_study, business.industry, Incidence (epidemiology), Incidence, General Medicine, medicine.disease, Neurology, Surgery, Anticonvulsants, Female, Neurology (clinical), Medical emergency, Queensland, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c58ca31c82080a476706d6bbb67fe924Test
https://pubmed.ncbi.nlm.nih.gov/26387918Test