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1دورية أكاديمية
المؤلفون: O'Hora, Kathleen P, Zhang, Zizhao, Vajdi, Ariana, Kushan-Wells, Leila, Huang, Zhengyi Sissi, Pacheco-Hansen, Laura, Roof, Elizabeth, Holland, Anthony, Gur, Ruben C, Bearden, Carrie E
مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Brain Disorders, Prevention, Congenital Structural Anomalies, Rare Diseases, Mental Health, Pediatric, Sleep Research, Neurosciences, Basic Behavioral and Social Science, Genetics, Behavioral and Social Science, Clinical Research, Aetiology, 2.3 Psychological, social and economic factors, Mental health, Prader Willi Syndrome, psychosis, sleep, genetic subtype, cognition, remote assessment, neurogenetic disorders, Clinical Sciences, Public Health and Health Services, Psychology, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/67j119v7Test
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2دورية أكاديمية
المؤلفون: Nalaka Wijekoon, Lakmal Gonawala, Pyara Ratnayake, Darshana Sirisena, Harsha Gunasekara, Athula Dissanayake, Sunethra Senanayake, Ajantha Keshavaraj, Yetrib Hathout, Harry W.M. Steinbusch, Chandra Mohan, Ashwin Dalal, Eric Hoffman, K.Ranil D de Silva
المصدر: IBRO Neuroscience Reports, Vol 14, Iss , Pp 146-153 (2023)
مصطلحات موضوعية: Indian Sub-continent, Developing Countries, Neurogenetic Disorders, Bio Bank, Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S266724212300009XTest; https://doaj.org/toc/2667-2421Test
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3دورية أكاديمية
المؤلفون: Galer, Peter D, Ganesan, Shiva, Lewis-Smith, David, McKeown, Sarah E, Pendziwiat, Manuela, Helbig, Katherine L, Ellis, Colin A, Rademacher, Annika, Smith, Lacey, Poduri, Annapurna, Seiffert, Simone, von Spiczak, Sarah, Muhle, Hiltrud, van Baalen, Andreas, Group, NCEE Study, Investigators, EPGP, Consortium, EuroEPINOMICS-RES, Network, Genomics Research and Innovation, Thomas, Rhys H, Krause, Roland, Weber, Yvonne, Helbig, Ingo
المصدر: American Journal of Human Genetics. 107(4)
مصطلحات موضوعية: Biological Sciences, Genetics, Neurodegenerative, Epilepsy, Prevention, Neurosciences, Brain Disorders, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Child, Preschool, Cohort Studies, Female, GABA Plasma Membrane Transport Proteins, Gene Expression, Gene Ontology, Humans, Male, Munc18 Proteins, Mutation, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Seizures, Semantics, Shab Potassium Channels, Spasms, Infantile, Speech Disorders, Terminology as Topic, Exome Sequencing, NCEE Study Group, EPGP Investigators, EuroEPINOMICS-RES Consortium, Genomics Research and Innovation Network, Human Phenotype Ontology, childhood epilepsies, computational phenotypes, developmental and epileptic encephalopathies, electronic medical records, neurogenetic disorders, whole-exome sequencing, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1jp636w4Test
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4دورية أكاديمية
المؤلفون: Shanshan Mao, Chunyu Li, Bo Yuan, Lan Yu, Huifang Shang
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: next-generation sequencing, neurogenetic disorders, genetic testing strategies, precise diagnosis, therapy, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1236350/fullTest; https://doaj.org/toc/1664-2295Test
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5دورية أكاديمية
المؤلفون: Burak Uzay, Ege T. Kavalali
المصدر: Frontiers in Synaptic Neuroscience, Vol 15 (2023)
مصطلحات موضوعية: SNAREopathy, synapse, neurogenetic disorders, SNAP25, synaptobrevin, syntaxin, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fnsyn.2023.1148957/fullTest; https://doaj.org/toc/1663-3563Test
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6دورية أكاديمية
المؤلفون: Min-Jee Kim, Mi-Sun Yum, Go Hun Seo, Tae-Sung Ko, Beom Hee Lee
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: movement disorders, whole-exome sequencing, next-generation sequencing, neurogenetic disorders, pediatric neurological disease, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.829558/fullTest; https://doaj.org/toc/1664-8021Test
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7دورية أكاديمية
المؤلفون: Mario Mastrangelo, Serena Galosi, Serena Cesario, Alessia Renzi, Lucilla Campea, Vincenzo Leuzzi
المصدر: Frontiers in Neurology, Vol 13 (2022)
مصطلحات موضوعية: developmental and epileptic encephalopathies, movement disorders, neurogenetic disorders, next generation sequencing-NGS, phenotypes, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.855134/fullTest; https://doaj.org/toc/1664-2295Test
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8دورية أكاديمية
المؤلفون: Kathleen E. Wilson, Ari M. Fish, Catherine Mankiw, Anastasia Xenophontos, Allysa Warling, Ethan Whitman, Liv Clasen, Erin Torres, Jonathan Blumenthal, Armin Raznahan
المصدر: Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-12 (2021)
مصطلحات موضوعية: Copy number variants, Sex chromosome aneuploidies, Neurogenetic disorders, Modeling penetrance, Precision psychiatry, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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9مؤتمر
المؤلفون: Kathleen E. Wilson (10348575), Ari M. Fish (10348578), Catherine Mankiw (10348581), Anastasia Xenophontos (10348584), Allysa Warling (10348587), Ethan Whitman (10348590), Liv Clasen (9636232), Erin Torres (10348593), Jonathan Blumenthal (10348596), Armin Raznahan (6523064)
مصطلحات موضوعية: Medicine, Genetics, Science Policy, Biological Sciences not elsewhere classified, Copy number variants, Sex chromosome aneuploidies, Neurogenetic disorders, Modeling penetrance, Precision psychiatry
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10دورية أكاديمية
المؤلفون: Morris Scantlebury, Karlene Tanechia Barrett, Simeona Jacinto, David Orlando Christopher Corbin, Marina Kerr, Aneal Khan
المصدر: The Pan African Medical Journal, Vol 38, Iss 111 (2021)
مصطلحات موضوعية: neurogenetic disorders, epilepsy, caribbean, Medicine
وصف الملف: electronic resource
العلاقة: https://www.panafrican-med-journal.com/content/article/38/111/pdf/111.pdfTest; https://doaj.org/toc/1937-8688Test