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1
المؤلفون: Nikolay V. Zernov, Mikhail Skoblov, Elena L. Dadali, Vyacheslav Tabakov, Andrey V. Marakhonov, Inna V. Sharkova
المصدر: Gene. 672:165-171
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, Contracture, Ullrich congenital muscular dystrophy, DNA Mutational Analysis, Collagen Type VI, Biology, Muscular Dystrophies, 03 medical and health sciences, 0302 clinical medicine, Collagen VI, Genetics, medicine, Humans, Allele, Child, Myopathy, Gene, Cells, Cultured, Exome sequencing, Sclerosis, Base Sequence, Bethlem myopathy, General Medicine, medicine.disease, Molecular biology, Extracellular Matrix, Pedigree, 030104 developmental biology, Molecular Diagnostic Techniques, Codon, Nonsense, Female, medicine.symptom, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb2b3e2cb630ebf81ef1d7db16d953dcTest
https://doi.org/10.1016/j.gene.2018.06.026Test -
2
المصدر: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 117(11)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Neurological examination, Russia, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Blood serum, Internal medicine, Medicine, Facioscapulohumeral muscular dystrophy, Humans, Child, biology, medicine.diagnostic_test, business.industry, Middle Aged, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Molecular analysis, Psychiatry and Mental health, 030104 developmental biology, Chromosome 4, Phenotype, biology.protein, Russian population, Creatine kinase, Female, Neurology (clinical), Age of onset, Chromosomes, Human, Pair 4, business, 030217 neurology & neurosurgery, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75314e173ea23471d42cb1a0757f2f0fTest
https://pubmed.ncbi.nlm.nih.gov/29265097Test