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Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism.Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy.Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the diseaseMolecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.[Structural variations of the genome in autistic spectrum disorders with intellectual disability].
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description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Maria A. Zelenova
@ast
Maria A. Zelenova
@en
Maria A. Zelenova
@es
Maria A. Zelenova
@nl
Maria A. Zelenova
@sl
type
label
Maria A. Zelenova
@ast
Maria A. Zelenova
@en
Maria A. Zelenova
@es
Maria A. Zelenova
@nl
Maria A. Zelenova
@sl
prefLabel
Maria A. Zelenova
@ast
Maria A. Zelenova
@en
Maria A. Zelenova
@es
Maria A. Zelenova
@nl
Maria A. Zelenova
@sl
P1053
J-8013-2017
P106
P1153
52265092700
P21
P31
P3829
P496
0000-0001-7458-5396