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1دورية أكاديمية
المؤلفون: Timothy E. Green, Atsushi Fujita, Navid Ghaderi, Erin L. Heinzen, Naomichi Matsumoto, Karl Martin Klein, Samuel F. Berkovic, Michael S. Hildebrand
المصدر: Neurobiology of Disease, Vol 185, Iss , Pp 106261- (2023)
مصطلحات موضوعية: Sonic hedgehog signalling, Hypothalamic hamartoma, Mosaicism, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Melanie Bahlo, Chontelle King, Matthew Coleman, Timothy E. Green, John Goldsmith, Suzanne Davis, Deepak Gill, Simone Mandelstam, Ingrid E. Scheffer, Lynette G. Sadleir
المصدر: Epilepsia Open, Vol 7, Iss 1, Pp 170-180 (2022)
مصطلحات موضوعية: developmental and epileptic encephalopathy, epilepsy, infantile, movement disorder, myoclonic, RARS2, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2470-9239
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3دورية أكاديمية
المؤلفون: Timothy E. Green, Mark F. Bennett, Ilka Immisch, Jeremy L. Freeman, Karl Martin Klein, John F. Kerrigan, Lata Vadlamudi, Erin L. Heinzen, Ingrid E. Scheffer, A. Simon Harvey, Felix Rosenow, Michael S. Hildebrand, Samuel F. Berkovic
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100810- (2023)
مصطلحات موضوعية: GLI3 gene, Hypothalamic hamartoma, Mosaicism, Pallister-Hall syndrome, Polydactyly, Genetics, QH426-470, Medicine
وصف الملف: electronic resource
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4
المؤلفون: Karen L. Oliver, Marina Trivisano, Simone A. Mandelstam, Angela De Dominicis, David I. Francis, Timothy E. Green, Alison M. Muir, Apoorva Chowdhary, Christoph Hertzberg, Klaus Goldhahn, Julia Metreau, Christine Prager, Jason Pinner, Michael Cardamone, Kenneth A. Myers, Richard J. Leventer, Gaetan Lesca, Melanie Bahlo, Michael S. Hildebrand, Heather C. Mefford, Angela M. Kaindl, Nicola Specchio, Ingrid E. Scheffer
المصدر: Epilepsia. 64:1351-1367
مصطلحات موضوعية: Neurology, Neurology (clinical)
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5
المؤلفون: Timothy E Green, Joshua E Motelow, Mark F Bennett, Zimeng Ye, Caitlin A Bennett, Nicole G Griffin, John A Damiano, Richard J Leventer, Jeremy L Freeman, A Simon Harvey, Paul J Lockhart, Lynette G Sadleir, Amber Boys, Ingrid E Scheffer, Heather Major, Benjamin W Darbro, Melanie Bahlo, David B Goldstein, John F Kerrigan, Erin L Heinzen, Samuel F Berkovic, Michael S Hildebrand
المصدر: Hum Mol Genet
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Hamartoma, Genetics, Humans, Original Article, Hedgehog Proteins, General Medicine, Magnetic Resonance Imaging, Molecular Biology, Ciliopathies, Hypothalamic Diseases, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c335523fad181bfe5a044bcac20cd8e
https://doi.org/10.1093/hmg/ddab366 -
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المصدر: Brain. 145:e10-e12
مصطلحات موضوعية: Humans, Nerve Tissue Proteins, Epilepsies, Partial, Neurology (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::387e201539b2c3dd4ac0ed6492c599b5
https://doi.org/10.1093/brain/awab485 -
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المؤلفون: Timothy E. Green, Mark F. Bennett, Ilka Immisch, Jeremy L. Freeman, Karl Martin Klein, John F. Kerrigan, Lata Vadlamudi, Erin L. Heinzen, Ingrid E. Scheffer, A. Simon Harvey, Felix Rosenow, Michael S. Hildebrand, Samuel F. Berkovic
المصدر: Genetics in Medicine Open. :100810
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المؤلفون: Timothy E. Green, Mareike Schimmel, Susanna Schubert, Johannes R. Lemke, Mark F. Bennett, Michael S. Hildebrand, Samuel F. Berkovic
المصدر: Eur J Hum Genet
مصطلحات موضوعية: Polydactyly, Hamartoma, Pallister-Hall Syndrome, Genetics, Humans, Brief Communication, Smoothened Receptor, Genetics (clinical), Hypothalamic Diseases
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7138c13c0d217c2f34eafc20bc650b0a
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/93599 -
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المؤلفون: Ingrid E. Scheffer, Susan M Carden, Michael S. Hildebrand, Anthony J. Penington, Samuel F. Berkovic, Timothy E Green, Rebekah V Harris, Duncan MacGregor, Chelsee A. Hewitt
المصدر: Cold Spring Harbor Molecular Case Studies
مصطلحات موضوعية: Research Report, Hemimegalencephaly, Pathology, medicine.medical_specialty, generalized tonic seizures, medicine.disease_cause, Temporal lobe, Proto-Oncogene Proteins p21(ras), Nevus sebaceous, medicine, mild, Humans, Epilepsy surgery, HRAS, skin and connective tissue diseases, Nevus, Hippocampal sclerosis, business.industry, focal seizures with impairment of consciousness or awareness, Brain, General Medicine, linear nevus sebaceous, Cortical dysplasia, medicine.disease, intellectual disability, ras Proteins, KRAS, Neoplasm Recurrence, Local, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b4d269a4d3b26e33426fa9b84dc6432
http://europepmc.org/articles/PMC8751419 -
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المؤلفون: Samuel F. Berkovic, Naomichi Matsumoto, Annapurna Poduri, Lara McQuillan, Zimeng Ye, Ingrid E. Scheffer, Heather C Mefford, Michael S. Hildebrand, Timothy E Green
المصدر: Epilepsy research. 155
مصطلحات موضوعية: 0301 basic medicine, Somatic cell, Biology, medicine.disease_cause, Germline, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Germline mutation, medicine, Humans, Copy-number variation, Genetics, Mutation, Mosaicism, Brain, Cortical dysplasia, medicine.disease, Malformations of Cortical Development, 030104 developmental biology, Neurology, Neurology (clinical), Epilepsies, Partial, 030217 neurology & neurosurgery, Adult stem cell