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1دورية أكاديمية
المؤلفون: Mary-Bronwen L Chalkley, Rachel B Mersfelder, Maria Sundberg, Laura C Armstrong, Mustafa Sahin, Rebecca A Ihrie, Kevin C Ess
المصدر: PLoS ONE, Vol 18, Iss 10, p e0292086 (2023)
وصف الملف: electronic resource
العلاقة: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0292086&type=printableTest; https://doaj.org/toc/1932-6203Test
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2
المؤلفون: Laura C. Armstrong, Kevin C. Ess, Alfred L. George, Lindsay K. Klofas, Grant Westlake, John P. Snow, Kathryn J. Swoboda, Soyoun Jeon
المصدر: Neurobiology of Disease, Vol 141, Iss, Pp 104881-(2020)
مصطلحات موضوعية: 0301 basic medicine, Neurodevelopment, Mutation, Missense, Hemiplegia, Biology, medicine.disease_cause, lcsh:RC321-571, 03 medical and health sciences, 0302 clinical medicine, ATP1A3, medicine, Missense mutation, Humans, RNA, Messenger, Induced pluripotent stem cell, Gene, Flunarizine, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Cells, Cultured, 030304 developmental biology, Cerebral Cortex, Neurons, 0303 health sciences, Mutation, Alternating hemiplegia of childhood, Cell Differentiation, medicine.disease, Phenotype, 3. Good health, Cell biology, Induced pluripotent stem cells, 030104 developmental biology, Disease modeling, Neurology, Neuronal differentiation, Female, Sodium-Potassium-Exchanging ATPase, 030217 neurology & neurosurgery, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e665e8dc211a8cc1b4f85db7307c1a44Test
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المؤلفون: Aaron B. Bowman, Kevin C. Ess, Laura C. Armstrong, Grant Westlake, Eric A Armour, Bryan Cawthon, John P. Snow
المصدر: Human molecular genetics. 26(23)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Cell type, congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, Adolescent, Induced Pluripotent Stem Cells, Loss of Heterozygosity, Biology, Tuberous Sclerosis Complex 1 Protein, 03 medical and health sciences, Tuberous Sclerosis, Tuberous Sclerosis Complex 2 Protein, Genetics, medicine, Humans, Kinase activity, RNA, Small Interfering, Induced pluripotent stem cell, Child, Molecular Biology, Genetics (clinical), PI3K/AKT/mTOR pathway, Alleles, TOR Serine-Threonine Kinases, Tumor Suppressor Proteins, Infant, General Medicine, Articles, Fibroblasts, Cellular Reprogramming, Genes, p53, nervous system diseases, 030104 developmental biology, medicine.anatomical_structure, Child, Preschool, Mutation, Cancer research, Female, TSC1, TSC2, Stem cell, Tumor Suppressor Protein p53, Reprogramming, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::452337d109fd03139d4492f020d1a5d1Test
https://pubmed.ncbi.nlm.nih.gov/28973543Test