يعرض 1 - 1 نتائج من 1 نتيجة بحث عن '"Pol1 Transcription Initiation Complex Proteins genetics"', وقت الاستعلام: 0.87s تنقيح النتائج
  1. 1
    Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

    المؤلفون: Carlo Rivolta, Andrea Superti-Furga, Sébastien Lebon, Beryl Royer-Bertrand, Eliane Roulet-Perez, Mathieu Quinodoz, Claudia Poloni, Filipa Bastos, Heidi Fodstad, Marie-Claude Addor

    المصدر: BMC Neurology
    BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
    BMC neurology, vol. 20, no. 1, pp. 17

    مصطلحات موضوعية: Male, Proband, medicine.medical_specialty, Neurology, Genotype, Case Report, Disease, Electroencephalography, Bioinformatics, lcsh:RC346-429, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Neurochemistry, EEG, Neurodegeneration, Child, lcsh:Neurology. Diseases of the nervous system, 030304 developmental biology, 0303 health sciences, medicine.diagnostic_test, business.industry, Genetic Variation, Neurodegenerative Diseases, General Medicine, medicine.disease, Phenotype, UBTF, Neurodegenerative Diseases/genetics, Pol1 Transcription Initiation Complex Proteins/genetics, Neurology (clinical), business, Pol1 Transcription Initiation Complex Proteins, 030217 neurology & neurosurgery, Progressive disease

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4827192ded45c648667da8a79f88b213
    https://doi.org/10.1186/s12883-019-1586-x

    Find this article in full text from Springer Verlag. Find this article in full text from ProQuest
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