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1دورية أكاديمية
المؤلفون: Anna A. Kashevarova, Tatyana V. Nikitina, Larisa I. Mikhailik, Elena O. Belyaeva, Stanislav A. Vasilyev, Mariya E. Lopatkina, Dmitry A. Fedotov, Elizaveta A. Fonova, Aleksei A. Zarubin, Aleksei A. Sivtsev, Nikolay A. Skryabin, Lyudmila P. Nazarenko, Igor N. Lebedev
المصدر: Genes, Vol 11, Iss 12, p 1473 (2020)
مصطلحات موضوعية: ring chromosome 8, invdupdel(8p), Birk-Barel syndrome, KCNK9, imprinting, Genetics, QH426-470
وصف الملف: electronic resource
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2
المؤلفون: Elizaveta A. Fonova, Elena O. Belyaeva, I. N. Lebedev, N.A. Skryabin, T. V. Nikitina, Dmitry A Fedotov, Lyudmila P. Nazarenko, A. A. Kashevarova, Aleksei A Sivtsev, S. A. Vasilyev, M.E. Lopatkina, Larisa I Mikhailik, Aleksei A. Zarubin
المصدر: Genes
Genes, Vol 11, Iss 1473, p 1473 (2020)
Volume 11
Issue 12مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Monosomy, lcsh:QH426-470, Karyotype, Ring chromosome, Nerve Tissue Proteins, Biology, KCNK9, Article, Craniofacial Abnormalities, Genomic Imprinting, 03 medical and health sciences, Potassium Channels, Tandem Pore Domain, 0302 clinical medicine, Intellectual Disability, Gene duplication, Genetics, medicine, Humans, Ring Chromosomes, Allele, ring chromosome 8, Genetics (clinical), Mosaicism, Membrane Proteins, medicine.disease, lcsh:Genetics, Phenotype, Birk-Barel syndrome, 030104 developmental biology, Child, Preschool, Karyotyping, Mutation, Muscle Hypotonia, Chromosome Deletion, imprinting, Genomic imprinting, invdupdel(8p), 030217 neurology & neurosurgery, Chromosomes, Human, Pair 8, SNP array
وصف الملف: application/pdf