Suchergebnisse - "Functions and Regulation of RNA Editing by ADARs"

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    Weitere Verfasser: Reza Maroofian Rauan Kaiyrzhanov Elisa Calì et al.

    Quelle: Brain

    Schlagwörter: Neurologi, Pediatrics, Gene, Medical Genetics and Genomics, Cerebellum, Pathology, genetics, generalized epilepsy, Child, 10. No inequality, MUTATION, 11 Medical and Health Sciences, Biological Phenomena, Mediator Complex, MED27 protein, neurodevelopmental disorders, Life Sciences, 17 Psychology and Cognitive Sciences, 3. Good health, Dystonia, cerebello-lental degeneration, Functions and Regulation of RNA Editing by ADARs, Neurology, RNA Methylation and Modification in Gene Expression, Child, Preschool, Molecular Basis of Rett Syndrome and Related Disorders, Medicine, Epilepsy, Generalized, dystonia, motor dysfunction, mediator complex, diagnostic imaging, Cataract, cerebellar atrophy, Joubert syndrome, Genetics, and Immunity, Humans, human, Molecular Biology, Biology, Science & Technology, Epilepsy, Generalized, Infant, Neurodevelopmental Disorders, FOS: Biological sciences, Cerebellar atrophy, Neurosciences & Neurology, Atrophy, Neuroscience, Medical Sciences, INTELLECTUAL DISABILITY, Intellectual disability, Global developmental delay, preschool child, mental disease, Medical Specialties, Medicine and Health Sciences, Missense mutation, Disease, 2. Zero hunger, Movement Disorders, Cell Phenomena, Pediatrik, Middle Aged, Medicinsk genetik och genomik, Phenotype, Medical Molecular Biology, 52 Psychology, Microcephaly, Original Article, Female, Medical Genetics, Life Sciences & Biomedicine, Adult, Cilium, Adolescent, Clinical Neurology, Hypotonia, Biomedical Informatics, Neurology and psychiatry, Young Adult, Biochemistry, Genetics and Molecular Biology, Preschool, Movement disorders, Medicinsk genetik, COMPLEX, Neurology & Neurosurgery, 42 Health sciences, Neurosciences, Brain Development, Genetics and Genomics, 32 Biomedical and clinical sciences, gene transcription, pathology, Ataxia

    Dateibeschreibung: application/pdf

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    Quelle: J Med Genet
    Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
    Consejería de Sanidad de la Comunidad de Madrid
    Mirchi, A, Guay, S P, Tran, L T, Wolf, N I, Vanderver, A, Brais, B, Sylvain, M, Pohl, D, Rossignol, E, Saito, M, Moutton, S, González-Gutiérrez-Solana, L, Thiffault, I, Kruer, M C, Moron, D G, Kauffman, M, Goizet, C, Sztriha, L, Glamuzina, E, Melançon, S B, Naidu, S, Retrouvey, J M, Lacombe, S, Bernardino-Cuesta, B, De Bie, I & Bernard, G 2023, 'Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C', Journal of Medical Genetics, vol. 60, no. 10, pp. 1026-1034. https://doi.org/10.1136/jmg-2023-109223

    Dateibeschreibung: application/pdf

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