المؤلفون: Wenshu XiangWei, Grazia M.S. Mancini, Michael S. Hildebrand, G. Christoph Korenke, Federico Sicca, Candace T. Myers, Johanna M. van Hagen, Stephen M. Malone, Ingrid E. Scheffer, Richard Webster, Han Xie, Conny M. A. van Ravenswaaij-Arts, Renate M Kalnins, Heather C Mefford, Rosemary Burgess, Danielle Williams, Davide Mei, Samuel F. Berkovic, Tyson L Ware, Alice S. Brooks, Saskia M. Maas, Renzo Guerrini, Danique R.M. Vlaskamp, Martino Montomoli, Ingrid M.B.H. van de Laar, Benjamin J. Shaw, Yuwu Jiang, Mark F. Bennett

المساهمون: Amsterdam Reproduction & Development (AR&D), Clinical Cognitive Neuropsychiatry Research Program (CCNP), Human Genetics, Clinical Genetics

المصدر: Neurology, 92(2), E96-E107. Lippincott Williams and Wilkins
Neurology, 92(2), E96-E107. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 92(2), E96-E107. Lippincott Williams & Wilkins

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, INTELLECTUAL DISABILITY, GENES, Ataxia, Encephalopathy, Context (language use), DIAGNOSIS, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, ABSENCES, medicine, GTPASE-ACTIVATING PROTEIN, 030212 general & internal medicine, AUTISM, Atonic seizure, SPECTRUM, Seizure types, business.industry, EYELID MYOCLONIA, medicine.disease, Hypotonia, Drop attack, DE-NOVO MUTATIONS, Neurology (clinical), medicine.symptom, business, FORM, 030217 neurology & neurosurgery

وصف الملف: application/pdf

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المؤلفون: Rosemary Burgess, John A. Damiano, Samuel F. Berkovic, Michael S. Hildebrand, Alexander Dobrovic, Renate M Kalnins, Ezgi Ozturk, Hongdo Do, Nigel C. Jones

المصدر: Epileptic Disorders. 19:450-455

مصطلحات موضوعية: Adult, 0301 basic medicine, Drug Resistant Epilepsy, Somatic cell, Classical Lissencephalies and Subcortical Band Heterotopias, Biology, Real-Time Polymerase Chain Reaction, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Intellectual Disability, Tissue mosaicism, Humans, Language Development Disorders, Digital polymerase chain reaction, Mutation frequency, Genetics, Mutagenesis, General Medicine, Phenotype, 030104 developmental biology, Neurology, 1-Alkyl-2-acetylglycerophosphocholine Esterase, Mutation, Mutation (genetic algorithm), Female, Epilepsies, Partial, Neurology (clinical), Microtubule-Associated Proteins, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6010f3d82e5d9a7aae390ab9fc592948Test
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المؤلفون: Sarah Paterson, Michael S. Hildebrand, Renate M Kalnins, Natalie Redshaw, Melanie Bahlo, Katherine R. Smith, Lynette G. Sadleir, Ingrid E. Scheffer, Samuel F. Berkovic, Annemarei Ranta

المصدر: Epilepsy Research. 114:98-105

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Genetic Linkage, Epilepsies, Myoclonic, Progressive myoclonus epilepsy, Young Adult, Epilepsy, Photosensitive epilepsy, Seizures, medicine, Humans, Family, Inbreeding, Photosensitivity Disorders, Child, Dystonia, Myoclonic Epilepsy, Juvenile, DNA, Syndrome, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Pedigree, Phenotype, Neurology, Paroxysmal dystonia, Dystonic Disorders, Anesthesia, Myoclonic epilepsy, Anticonvulsants, Female, Neurology (clinical), Juvenile myoclonic epilepsy, medicine.symptom, Cognition Disorders, Psychology, Myoclonus

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e009fedd853decbd366d2fd03e0f990aTest
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المؤلفون: Stephen T Byrne, Renate M Kalnins, Augusto Gonzalvo, Myron A. Rogers, Jonathan C. M. Clark, Bryden Dawes

المصدر: Journal of Clinical Neuroscience. 21:1990-1993

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, medicine.medical_treatment, Spinal Cord Neoplasm, Quadriplegia, Nerve Sheath Neoplasms, Physiology (medical), Cervical Nerve, medicine, Humans, Neurofibroma, Spinal Cord Neoplasms, Cervical Plexus, Germinoma, business.industry, Cervical plexus, General Medicine, medicine.disease, Magnetic Resonance Imaging, Radiation therapy, Neurology, Pinealoma, Surgery, Neurology (clinical), Cranial Irradiation, business, Nerve sheath neoplasm

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e3af4e7b1495bbd011013d4c59f107eTest
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المؤلفون: Simone Mandelstam, Richard J. Leventer, Renate M Kalnins, Mark T Mackay, Jacinta M McMahon, Kenneth A. Myers, Ingrid E. Scheffer

المصدر: Pediatrics. 139

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Brain Edema, Epilepsies, Myoclonic, Status epilepticus, Brain herniation, Cerebral edema, 03 medical and health sciences, Epilepsy, Status Epilepticus, 0302 clinical medicine, Dravet syndrome, Edema, Humans, Medicine, Child, Cause of death, business.industry, Brain, Infant, Sequela, medicine.disease, NAV1.1 Voltage-Gated Sodium Channel, 030104 developmental biology, Child, Preschool, Anesthesia, Mutation, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5f1c8545b9907e4281f3b6f76125e26Test
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المؤلفون: Alice Ho, Harvey B. Sarnat, Chung Wo Chow, Graeme D. Jackson, Ingrid E. Scheffer, Masayuki Itoh, Mitsuhiro Kato, Simone Mandelstam, Floor E. Jansen, Peter B. Crino, Tatsuya Fukasawa, Richard J. Leventer, Naomichi Matsumoto, Samuel F. Berkovic, Ismail S. Mohamed, Renate M Kalnins, A. Simon Harvey, Hirotomo Saitsu

المصدر: Epilepsia. 55:e22-e26

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Hemimegalencephaly, Adolescent, Ganglioglioma, Young Adult, Epilepsy, Neuroimaging, medicine, Genetic predisposition, Humans, Genetic Predisposition to Disease, Epilepsy surgery, Child, business.industry, Dysembryoplastic Neuroepithelial Tumor, Infant, Anatomy, Cortical dysplasia, medicine.disease, Pedigree, Malformations of Cortical Development, Neurology, Female, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2914fafa5ca5fc8195234167bea79fd1Test
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المؤلفون: Samuel F. Berkovic, Renate M Kalnins, Clare A. Averill, Graeme D. Jackson, Gavin Fabinyi, Anne M. McIntosh, L. Anne Mitchell

المصدر: Epilepsia. 53:970-978

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Hazard ratio, Retrospective cohort study, Perioperative, Cortical dysplasia, medicine.disease, Confidence interval, Surgery, Epilepsy, Neurology, Anesthesia, Medicine, Epilepsy surgery, Neurology (clinical), Neurosurgery, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9018cabeb11c0818d5f6fd707101c1e7Test
https://doi.org/10.1111/j.1528-1167.2012.03430.xTest

المؤلفون: Renate M Kalnins, Ezgi Ozturk, Alexander Dobrovic, Samuel F. Berkovic, Greta Gillies, Zimeng Ye, Nigel C. Jones, Paul J. Lockhart, Michael S. Hildebrand, Lara McQuillan, Bernadette Nolan, John A. Damiano, Stephen M. Malone, Kate Pope, Hongdo Do, Martin Wood, Richard J. Leventer, Simon Harvey, Ingrid E. Scheffer, Wirginia J. Maixner

المصدر: Neurology Genetics. 4:e236

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, business.industry, Somatic cell, Sturge–Weber syndrome, Forme fruste, Brain tissue, medicine.disease, 3. Good health, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Mutation (genetic algorithm), Medicine, Digital polymerase chain reaction, Epilepsy surgery, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), GNAQ

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::32aaf484181595888770644357672076Test
https://doi.org/10.1212/nxg.0000000000000236Test

المؤلفون: Samuel F. Berkovic, Gavin Fabinyi, Gregory J Fitt, L. Anne Mitchell, Renate M Kalnins, Mandy Lau, Graeme D. Jackson, Amal Abou-Hamden, John S. Archer

المصدر: Epilepsia. 51:2199-2202

مصطلحات موضوعية: medicine.medical_specialty, Pathology, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, Electroencephalography, medicine.disease, Temporal lobe, Encephalocele, Epilepsy, Skull, medicine.anatomical_structure, Neurology, Positron emission tomography, medicine, Ictal, Neurology (clinical), Radiology, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fb1dadc76b66b5d4130484e9fbf26d7fTest
https://doi.org/10.1111/j.1528-1167.2010.02572.xTest

المؤلفون: Nicole Lightfoot, Renate M Kalnins

المصدر: Pathology. 45:696-698

مصطلحات موضوعية: Pathology, medicine.medical_specialty, medicine.diagnostic_test, biology, business.industry, Follicular lymphoma, Magnetic resonance imaging, medicine.disease, Immunoglobulin G, Pathology and Forensic Medicine, medicine, biology.protein, business, Diffuse large B-cell lymphoma, Meningitis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::af5d66aa7d4e109b8284e17edf1ac22bTest
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