Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene

por Sharkov, Artem, Sparber, Peter, Stepanova, Anna, Pyankov, Denis, Korostelev, Sergei, Skoblov, Mikhail
Publicado 2022

Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism

por Iourov, Ivan Y., Vorsanova, Svetlana G., Zelenova, Maria A., Korostelev, Sergei A., Yurov, Yuri B.
Publicado 2015

Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy

por Iourov, Ivan Y., Vorsanova, Svetlana G., Korostelev, Sergei A., Zelenova, Maria A., Yurov, Yuri B.
Publicado 2015