Výsledky vyhľadávania - "RNA Methylation and Modification in Gene Expression"

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    Zdroj: FEBS Open Bio
    FEBS Open Bio, Vol 14, Iss 7, Pp 1166-1191 (2024)

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    Zdroj: EMBO Mol Med
    EMBO MOLECULAR MEDICINE
    r-FISABIO. Repositorio Institucional de Producción Científica
    Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
    EMBO Molecular Medicine, Vol 16, Iss 3, Pp 475-505 (2024)

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    Zdroj: Nucleic Acids Res
    Nucleic acids research, vol. 52, no. D1, pp. D442-D455
    Kumar, Manjeet; Michael, Sushama; Alvarado-Valverde, Jesús; Zeke, András; Lazar, Tamas; Glavina, Juliana; Nagy-Kanta, Eszter; Donagh, Juan Mac; Kalman, Zsofia E; Pascarelli, Stefano; Palopoli, Nicolas; Dobson, László; Suarez, Carmen Florencia; Van Roey, Kim; Krystkowiak, Izabella; Griffin, Juan Esteban; Nagpal, Anurag; Bhardwaj, Rajesh; Diella, Francesca; Mészáros, Bálint; ... (2024). ELM-the Eukaryotic Linear Motif resource-2024 update. Nucleic acids research, 52(D1), D442-D455. Oxford University Press 10.1093/nar/gkad1058 <http://dx.doi.org/10.1093/nar/gkad1058>
    Nucleic Acids Research, 52 (D1)

    Popis súboru: application/pdf; application/application/pdf; Print; D455

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    Prispievatelia: Reza Maroofian Rauan Kaiyrzhanov Elisa Calì a ďalší

    Zdroj: Brain

    Predmety: 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

    Popis súboru: application/pdf

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    Zdroj: 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

    Popis súboru: application/pdf

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