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1دورية أكاديمية
المؤلفون: Wei Shern Lee, Emma Macdonald‐Laurs, Sarah E M Stephenson, Colleen D'Arcy, Duncan MacGregor, Richard J Leventer, Wirginia Maixner, A Simon Harvey, Paul J Lockhart
المصدر: Epilepsia Open, Vol 8, Iss 1, Pp 205-210 (2023)
مصطلحات موضوعية: brain malformation, dysmorphic neuron, epilepsy, genetics, somatic mosaicism, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2470-9239
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2دورية أكاديمية
المؤلفون: Wei Shern Lee, Sara Baldassari, Mathilde Chipaux, Homa Adle‐Biassette, Sarah E. M. Stephenson, Wirginia Maixner, A. Simon Harvey, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer
المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 2, Pp 485-490 (2021)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2328-9503
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3دورية أكاديمية
المؤلفون: Yujing Gao, Gabrielle R. Wilson, Sarah E. M. Stephenson, Mustapha Oulad-Abdelghani, Nicolas Charlet-Berguerand, Kiymet Bozaoglu, Catriona A. McLean, Paul Q. Thomas, David I. Finkelstein, Paul J. Lockhart
المصدر: Molecular Brain, Vol 13, Iss 1, Pp 1-8 (2020)
مصطلحات موضوعية: RAB39B, RAB GTPase, Protein localization, Parkinsonism, Parkinson’s disease, Mouse model, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Wei Shern Lee, Sarah E. M. Stephenson, Katherine B. Howell, Kate Pope, Greta Gillies, Alison Wray, Wirginia Maixner, Simone A. Mandelstam, Samuel F. Berkovic, Ingrid E. Scheffer, Duncan MacGregor, Anthony Simon Harvey, Paul J. Lockhart, Richard J. Leventer
المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1338-1344 (2019)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2328-9503
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5دورية أكاديمية
المؤلفون: Wei Shern Lee, Sara Baldassari, Sarah E. M. Stephenson, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 3, p 1344 (2022)
مصطلحات موضوعية: focal cortical dysplasia, hemimegalencephaly, epilepsy, mTOR signalling, genetics, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Yujing Gao, Gabrielle R. Wilson, Nicholas Salce, Alexandra Romano, George D. Mellick, Sarah E. M. Stephenson, Paul J. Lockhart
المصدر: Frontiers in Neurology, Vol 11 (2020)
مصطلحات موضوعية: parkinson's disease, RAB39B, DNA polymorphisms, gene dosage, copy number variation, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Sarah E. M. Stephenson, Timothy D. Aumann, Juliet M. Taylor, Jessica R. Riseley, Ruili Li, Jeffrey R. Mann, Doris Tomas, Paul J. Lockhart
المصدر: Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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8
المؤلفون: Wei Shern Lee, Emma Macdonald‐Laurs, Sarah E M Stephenson, Colleen D'Arcy, Duncan MacGregor, Richard J Leventer, Wirginia Maixner, A Simon Harvey, Paul J Lockhart
المصدر: Epilepsia openREFERENCES.
مصطلحات موضوعية: Neurology, Neurology (clinical)
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9
المؤلفون: Wei Shern Lee, Sara Baldassari, Sarah E. M. Stephenson, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 1344, p 1344 (2022)
مصطلحات موضوعية: Drug Resistant Epilepsy, QH301-705.5, Catalysis, Inorganic Chemistry, Humans, genetics, Biology (General), Physical and Theoretical Chemistry, QD1-999, Molecular Biology, Spectroscopy, Neurons, Epilepsy, mTOR signalling, TOR Serine-Threonine Kinases, Organic Chemistry, Brain, hemimegalencephaly, General Medicine, Computer Science Applications, Malformations of Cortical Development, Chemistry, Malformations of Cortical Development, Group I, Mutation, focal cortical dysplasia, Signal Transduction
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10
المؤلفون: Martin B, Delatycki, Geneieve, Tai, Louise, Corben, Eppie M, Yiu, Marguerite V, Evans-Galea, Sarah E M, Stephenson, Lyle, Gurrin, Katrina J, Allen, David, Lynch, Paul J, Lockhart
المصدر: Movement disorders : official journal of the Movement Disorder Society. 29(7)
مصطلحات موضوعية: Adult, Male, Heterozygote, Adolescent, Genotype, Histocompatibility Antigens Class I, Membrane Proteins, Middle Aged, Mitochondrial Proteins, Young Adult, Friedreich Ataxia, Iron-Binding Proteins, Humans, Point Mutation, Female, Age of Onset, Child, Hemochromatosis Protein, Aged