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1دورية أكاديمية
المؤلفون: Michael S Hildebrand, A Simon Harvey, Stephen Malone, John A Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C Jones, Greta Gillies, Kate Pope, Paul J Lockhart, Alexander Dobrovic, Richard J Leventer, Ingrid E Scheffer, Samuel F Berkovic
مصطلحات موضوعية: Uncategorized, GNAQR183Q mutation, Sturge-Weber syndrome, forme fruste SWS, epilepsy
الإتاحة: https://doi.org/10.26181/22920797.v1Test
https://figshare.com/articles/journal_contribution/Somatic_GNAQ_mutation_in_the_forme_fruste_of_Sturge-Weber_syndrome/22920797Test -
2دورية أكاديمية
المؤلفون: Zimeng Ye (3636643), Zac Chatterton (3698380), Jahnvi Pflueger (10688781), John A Damiano (10688784), Lara McQuillan (10688787), Anthony Simon Harvey (10688790), Stephen Malone (6100019), Hongdo Do (92614), Wirginia Maixner (10688793), Amy Schneider (556109), Bernadette Nolan (10688796), Martin Wood (7231976), Wei Shern Lee (10688799), Greta Gillies (10688802), Kate Pope (451942), Michael Wilson (251188), Paul J Lockhart (10688805), Alexander Dobrovic (9477641), Ingrid E Scheffer (10577391), Melanie Bahlo (54258), Richard J Leventer (10688808), Ryan Lister (3321111), Samuel F Berkovic (10577323), Michael S Hildebrand (10688811)
مصطلحات موضوعية: Uncategorized, cell-free DNA, cerebrospinal fluid, focal epilepsy, liquid biopsy, somatic mutations
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المؤلفون: Greta Gillies, AS Harvey, Amy L Schneider, Alexander Dobrovic, William Maixner, John A. Damiano, Martin Wood, Paul J. Lockhart, Hongdo Do, Samuel F. Berkovic, Wei Shern Lee, Richard J. Leventer, Michael S. Hildebrand, Zac Chatterton, Jahnvi Pflueger, Ingrid E. Scheffer, Ryan Lister, Lara McQuillan, Kate Pope, Melanie Bahlo, Michael Wilson, Stephen M. Malone, Zimeng Ye, Bernadette Nolan
المصدر: Brain Communications
مصطلحات موضوعية: focal epilepsy, 0301 basic medicine, Pathology, medicine.medical_specialty, Autopsy, cerebrospinal fluid, Ganglioglioma, cell-free DNA, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Cerebrospinal fluid, medicine, Liquid biopsy, Uncategorized, liquid biopsy, medicine.diagnostic_test, business.industry, AcademicSubjects/SCI01870, Brain biopsy, General Engineering, Cortical dysplasia, medicine.disease, 030104 developmental biology, Cell-free fetal DNA, somatic mutations, Original Article, AcademicSubjects/MED00310, business, Corrigendum, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76f83c67e0cc458c566859e9d878a7f5Test
https://pubmed.ncbi.nlm.nih.gov/34151265Test -
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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b43e8716b2937cbe50492cad57ca584cTest
https://pubmed.ncbi.nlm.nih.gov/31295639Test -
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المؤلفون: Michael S, Hildebrand, A Simon, Harvey, Stephen, Malone, John A, Damiano, Hongdo, Do, Zimeng, Ye, Lara, McQuillan, Wirginia, Maixner, Renate, Kalnins, Bernadette, Nolan, Martin, Wood, Ezgi, Ozturk, Nigel C, Jones, Greta, Gillies, Kate, Pope, Paul J, Lockhart, Alexander, Dobrovic, Richard J, Leventer, Ingrid E, Scheffer, Samuel F, Berkovic
المصدر: Neurology: Genetics
مصطلحات موضوعية: Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::7734976916853c70eee4a3ada8578a91Test
https://pubmed.ncbi.nlm.nih.gov/29725622Test -
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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