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1دورية أكاديمية
المؤلفون: Kravitz, Stephanie N., Ferris, Elliott, Love, Michael I., Thomas, Alun, Quinlan, Aaron R., Gregg, Christopher
المصدر: In Cell Reports 31 January 2023 42(1)
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2دورية أكاديميةGenome‐wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy
المؤلفون: Chen, Zhongbo, Chen, Jason A, Shatunov, Aleksey, Jones, Ashley R, Kravitz, Stephanie N, Huang, Alden Y, Lawrence, Lauren, Lowe, Jennifer K, Lewis, Cathryn M, Payan, Christine AM, Lieb, Wolfgang, Franke, Andre, Deloukas, Panagiotis, Amouyel, Philippe, Tzourio, Christophe, Dartigues, Jean‐François, Groups, NNIPPS and BBBIPPS Study, Ludolph, Albert, Bensimon, Gilbert, Leigh, P Nigel, Bronstein, Jeff M, Coppola, Giovanni, Geschwind, Daniel H, Al‐Chalabi, Ammar
المصدر: Movement Disorders. 34(7)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Prevention, Clinical Research, Neurodegenerative, Genetics, Brain Disorders, Rare Diseases, Genetic Testing, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adult, Age of Onset, Aged, Aged, 80 and over, DNA Copy Number Variations, Female, Genome-Wide Association Study, Genotype, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Supranuclear Palsy, Progressive, tau Proteins, copy number variation, genome-wide association study, progressive supranuclear palsy, NNIPPS and BBBIPPS Study Groups, Human Movement and Sports Sciences, Neurology & Neurosurgery, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1fg3g3t6
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3دورية أكاديمية
المؤلفون: Leppa, Virpi M, Kravitz, Stephanie N, Martin, Christa Lese, Andrieux, Joris, Le Caignec, Cedric, Martin-Coignard, Dominique, DyBuncio, Christina, Sanders, Stephan J, Lowe, Jennifer K, Cantor, Rita M, Geschwind, Daniel H
المصدر: American journal of human genetics. 99(3)
مصطلحات موضوعية: Chromosomes, Human, Pair 2, Humans, Language Development Disorders, Genetic Predisposition to Disease, Oxidoreductases, Tumor Suppressor Proteins, Untranslated Regions, Oligonucleotide Array Sequence Analysis, Odds Ratio, Risk Factors, Cohort Studies, Siblings, Gene Duplication, Sequence Deletion, Penetrance, Exons, Databases, Genetic, Female, Male, Promoter Regions, Genetic, Genome-Wide Association Study, DNA Copy Number Variations, Autism Spectrum Disorder, WW Domain-Containing Oxidoreductase, Chromosomes, Human, Pair 2, Databases, Genetic, Promoter Regions, Pediatric, Brain Disorders, Genetic Testing, Human Genome, Intellectual and Developmental Disabilities, Mental Health, Genetics, Prevention, Autism, 2.1 Biological and endogenous factors, Genetics & Heredity, Biological Sciences, Medical and Health Sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/26w1v60z
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4دورية أكاديمية
المؤلفون: Prusiner, Stanley B, Woerman, Amanda L, Mordes, Daniel A, Watts, Joel C, Rampersaud, Ryan, Berry, David B, Patel, Smita, Oehler, Abby, Lowe, Jennifer K, Kravitz, Stephanie N, Geschwind, Daniel H, Glidden, David V, Halliday, Glenda M, Middleton, Lefkos T, Gentleman, Steve M, Grinberg, Lea T, Giles, Kurt
المصدر: Proceedings of the National Academy of Sciences of the United States of America. 112(38)
مصطلحات موضوعية: Neurodegenerative, Transmissible Spongiform Encephalopathy (TSE), Neurosciences, Parkinson's Disease, Brain Disorders, Rare Diseases, Infectious Diseases, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Aged, Animals, Brain, Exons, Female, HEK293 Cells, Humans, Immunohistochemistry, Male, Mice, Mice, Transgenic, Microscopy, Fluorescence, Middle Aged, Multiple System Atrophy, Neurodegenerative Diseases, Parkinsonian Disorders, Phosphorylation, Polymorphism, Single Nucleotide, Prions, Ubiquinone, alpha-Synuclein, neurodegeneration, Parkinson's disease, synucleinopathies, strains
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/02n7h183
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5دورية أكاديمية
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6دورية أكاديمية
المؤلفون: Pedersen, Brent S.Aff1, Aff2, Bhetariya, Preetida J., Brown, JoeAff1, Aff2, Kravitz, Stephanie N., Marth, Gabor, Jensen, Randy L., Bronner, Mary P., Underhill, Hunter R., Quinlan, Aaron R.Aff1, Aff2, Aff6
المصدر: Genome Medicine. 12(1)
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8دورية أكاديمية
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9دورية أكاديمية
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10دورية أكاديمية
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