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1دورية أكاديمية
المؤلفون: Randol, Jamie L, Kim, Kyoungmi, Ponzini, Matthew D, Tassone, Flora, Falcon, Alexandria K, Hagerman, Randi J, Hagerman, Paul J
المصدر: Genes. 15(3)
مصطلحات موضوعية: Biological Sciences, Genetics, Clinical Research, Pediatric, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Fragile X Syndrome, Brain Disorders, Mental Health, 2.1 Biological and endogenous factors, Aetiology, Humans, Trinucleotide Repeat Expansion, Leukocytes, Mononuclear, Autism Spectrum Disorder, Fragile X Mental Retardation Protein, RNA, Messenger, FMR1, fragile X syndrome, autism, full mutation, TR-FRET, mosaicism, intellectual disability
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9hf9377fTest
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2دورية أكاديمية
المؤلفون: Kargar, Maryam, Martínez-Cerdeño, Verónica, Hagerman, Randi
المصدر: International Journal of Molecular Sciences. 24(24)
مصطلحات موضوعية: FXTAS, hippocampus, pathology, Humans, Tremor, Gray Matter, Fragile X Mental Retardation Protein, Fragile X Syndrome, Ataxia, Hippocampus, Trinucleotide Repeat Expansion
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/26s2f55kTest
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3دورية أكاديمية
المؤلفون: Shaoping Zhong, Jianying Liu, Yangye Lian, Binbin Zhou, Xin Wang, Jing Ding
المصدر: BMC Neurology, Vol 24, Iss 1, Pp 1-6 (2024)
مصطلحات موضوعية: Fragile X-associated tremor/ataxia syndrome, Encephalitis-like episode, Neuronal intranuclear inclusion disease, Biopsy, Trinucleotide repeat expansion, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2377Test
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4دورية أكاديمية
المؤلفون: Giovanna Pinto Pires, Vinicius Sartori Fioresi, Drielli Canal, Dener Cezati Canal, Miquéias Fernandes, Otávio José Bernardes Brustolini, Paola de Avelar Carpinetti, Adésio Ferreira, Marcia Flores da Silva Ferreira
المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
مصطلحات موضوعية: Trinucleotide repeat expansions, Gene expression, Guava cultivars, SSR, Plant breeding, Genetic diversity, Medicine, Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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5دورية أكاديمية
المؤلفون: Zafarullah, Marwa, Li, Jie, Tseng, Elizabeth, Tassone, Flora
المصدر: Molecular Neurobiology. 60(4)
مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Rare Diseases, Fragile X Syndrome, 2.1 Biological and endogenous factors, Aetiology, Neurological, Humans, Trinucleotide Repeat Expansion, Alternative Splicing, Protein Isoforms, Fragile X Mental Retardation Protein, Fragile X-associated Tremor/ataxia Syndrome, ASFMR1, FMR1, Isoforms, Long Read Sequencing, Neurosciences, Psychology, Cognitive Sciences, Neurology & Neurosurgery, Biochemistry and cell biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/71d5s15rTest
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6دورية أكاديمية
المؤلفون: Das, Michael R, Chang, Yeonji, Anderson, Rachel, Saunders, Reuben A, Zhang, Nan, Tomberlin, Colson P, Vale, Ronald D, Jain, Ankur
المصدر: Proceedings of the National Academy of Sciences of the United States of America. 120(3)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Neurosciences, Rare Diseases, Genetics, Neurodegenerative, Biotechnology, Brain Disorders, Neurological, Humans, RNA, Trinucleotide Repeat Expansion, Spinocerebellar Ataxias, Huntington Disease, RAN translation, RNA aggregation, RNA localization, Repeat expansion diseases
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7g64219pTest
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7دورية أكاديمية
المؤلفون: Aishworiya, Ramkumar, Hwang, Ye Hyun, Santos, Ellery, Hayward, Bruce, Usdin, Karen, Durbin-Johnson, Blythe, Hagerman, Randi, Tassone, Flora
المصدر: Scientific Reports. 13(1)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Health Sciences, Clinical Sciences, Brain Disorders, Pediatric, Intellectual and Developmental Disabilities (IDD), Clinical Research, Mental Health, Rare Diseases, Attention Deficit Hyperactivity Disorder (ADHD), Fragile X Syndrome, Mental health, Good Health and Well Being, Female, Humans, Alleles, Fragile X Mental Retardation Protein, RNA, Messenger, Trinucleotide Repeat Expansion, Infant, Child, Preschool, Child, Adolescent, Young Adult, Adult, Middle Aged, Aged, Aged, 80 and over
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3gv7k63bTest
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8دورية أكاديمية
المؤلفون: Hessl, David, Rosselot, Hilary, Miller, Robert, Espinal, Glenda, Famula, Jessica, Sherman, Stephanie L, Todd, Peter K, Herrera, Ana Maria Cabal, Lipworth, Karen, Cohen, Jonathan, Hall, Deborah A, Leehey, Maureen, Grigsby, Jim, Weber, Jayne Dixon, Alusi, Sundus, Wheeler, Anne, Raspa, Melissa, Hudson, Tamaro, Sobrian, Sonya K
المصدر: Journal of Medical Genetics. 59(12)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Clinical Research, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Brain Disorders, Fragile X Syndrome, Neurodegenerative, Clinical Trials and Supportive Activities, 2.1 Biological and endogenous factors, Aetiology, Neurological, Good Health and Well Being, Humans, Fragile X Mental Retardation Protein, Trinucleotide Repeat Expansion, Neurodegenerative Diseases, Registries, Guanine, women's health, reproductive health, psychiatry, neurodegenerative diseases, movement disorders, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/781904b9Test
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9دورية أكاديمية
المؤلفون: Tassanakijpanich, Nattaporn, McKenzie, Forrest J, McLennan, Yingratana A, Makhoul, Elisabeth, Tassone, Flora, Jasoliya, Mittal J, Romney, Christopher, Petrasic, Ignacio Cortina, Napalinga, Kaye, Buchanan, Caroline B, Hagerman, Paul, Hagerman, Randi, Casanova, Emily L
المصدر: Journal of Medical Genetics. 59(7)
مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Fragile X Syndrome, Pediatric, Child, Preschool, Ehlers-Danlos Syndrome, Female, Fragile X Mental Retardation Protein, Heterozygote, Humans, Male, Phenotype, Trinucleotide Repeat Expansion, genetic predisposition to disease, genetics, medical, human genetics, gene expression, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/67c0975fTest
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10دورية أكاديمية
المؤلفون: YU Jia‑xi, YU Meng, ZHANG Wei, YUAN Yun, DENG Jian‑wen, WANG Zhao‑xia
المصدر: Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 23, Iss 9, Pp 798-806 (2023)
مصطلحات موضوعية: neuromuscular diseases, trinucleotide repeat expansion, pathology, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource