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)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c335523fad181bfe5a044bcac20cd8eTest
https://doi.org/10.1093/hmg/ddab366Test

المؤلفون: Nigel C. Jones, David Goldstein, Michael S. Hildebrand, John A. Damiano, John F. Kerrigan, Ezgi Ozturk, Benjamin W. Darbro, Erin L. Heinzen, Lynette G. Sadleir, Nicole G. Griffin, Heather J. Major, Rosemary Burgess, Jeremy L. Freeman, Richard J. Leventer, Andrew S. Allen, A. Simon Harvey, Ingrid E. Scheffer, Samuel F. Berkovic, Elisa J. Cops

المصدر: The American Journal of Human Genetics. 99:423-429

مصطلحات موضوعية: Male, 0301 basic medicine, Candidate gene, animal structures, Hamartoma, Kruppel-Like Transcription Factors, Loss of Heterozygosity, Nerve Tissue Proteins, Zinc Finger Protein Gli2, 03 medical and health sciences, 0302 clinical medicine, Hypothalamic hamartoma, Zinc Finger Protein Gli3, Report, GLI2, GLI3, Genetics, Humans, Exome, Hedgehog Proteins, Genetics(clinical), Sonic hedgehog, Genetics (clinical), Cyclic AMP-Dependent Protein Kinase Catalytic Subunits, biology, Wnt signaling pathway, Nuclear Proteins, CREB-Binding Protein, Hedgehog signaling pathway, 3. Good health, PRKACA, 030104 developmental biology, Mutation, embryonic structures, Cancer research, biology.protein, Female, Epilepsies, Partial, Hypothalamic Diseases, 030217 neurology & neurosurgery, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88afd92b1f26ae01f46200875d2839e7Test
https://doi.org/10.1016/j.ajhg.2016.05.031Test

المؤلفون: Manu Hegde, Catherine A. Schevon, Alison M. Pack, Annapurna Poduri, Gerald A. Grant, Mohamad A. Mikati, Edward Yang, Werner Doyle, Patricia Dugan, Katherine M. Keever, Danielle McBrian, Peter B. Crino, Hart G.W. Lidov, David Zagzag, Senthilmurugan Ramalingam, Dinesh Rathakrishnan, Jurriaan M. Peters, Erin L. Heinzen, Sameer A. Sheth, Peter Canoll, Catherine Shain, Ann M. Bergin, Brenda E. Porter, Colin D. Malone, Andrew S. Allen, Jorge Samanamud, Joseph R. Madsen, Christopher M. LaCoursiere, Nicole G. Griffin, Guy M. McKhann, Cigdem I. Akman, Evan H. Baugh, Carrie R. Muh, Melodie R. Winawer

المصدر: Annals of neurology, vol 83, iss 6

مصطلحات موضوعية: 0301 basic medicine, Nonsynonymous substitution, Male, Candidate gene, Pathology, Drug Resistant Epilepsy, Somatic cell, Neocortex, Neurodegenerative, Epilepsy, Phosphatidylinositol 3-Kinases, 0302 clinical medicine, 2.1 Biological and endogenous factors, Epilepsy surgery, Exome, Aetiology, Child, Neurons, TOR Serine-Threonine Kinases, Brain, Malformations of Cortical Development, Neurology, Neurological, Female, Biotechnology, medicine.medical_specialty, Monosaccharide Transport Proteins, Adolescent, Clinical Sciences, Biology, Article, 03 medical and health sciences, Young Adult, Germline mutation, Clinical Research, medicine, Genetics, Humans, Neurology & Neurosurgery, Prevention, Human Genome, Neurosciences, Cortical dysplasia, medicine.disease, Brain Disorders, 030104 developmental biology, Mutation, Neurology (clinical), 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::150e8e295ba763aa6dc47b2c75cfef4dTest
https://escholarship.org/uc/item/58k5h2dbTest

المؤلفون: Kenneth D. Cronin, Gerald A. Grant, Nicole M. Walley, Andrew S. Allen, Erin L. Heinzen, Christine M. Hulette, Peter B. Crino, Mohamad A. Mikati, Nicole G. Griffin, Catherine Rehder, Heather G. LaBreche

المصدر: Cold Spring Harbor Molecular Case Studies

مصطلحات موضوعية: Research Report, 0301 basic medicine, Genotype, Somatic cell, Buccal swab, Locus (genetics), Biology, Chromosomes, Genomic Imprinting, 03 medical and health sciences, 0302 clinical medicine, Chromosome 16, medicine, pachygyria, Humans, Alleles, Brain, Infant, Chromosome, hemimegalencephaly, DNA, General Medicine, DNA Methylation, Uniparental Disomy, medicine.disease, Molecular biology, Uniparental disomy, 030104 developmental biology, Child, Preschool, DNA methylation, Female, Genomic imprinting, Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::321a06371eee556959ba603ddefdfb76Test
https://doi.org/10.1101/mcs.a001735Test