Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report

por Levchenko, Olga, Filatova, Alexandra, Mishina, Irina, Antonenko, Aleksey, Skoblov, Mikhail
Publicado 2023

TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study

por Shatokhina, Olga, Kovalskaia, Valeriia, Sparber, Peter, Sharkova, Inna, Mishina, Irina, Kuznetsova, Vera, Ryzhkova, Oxana
Publicado 2023

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report

por Marakhonov, Andrey V., Mishina, Irina A., Kadyshev, Vitaly V., Repina, Svetlana A., Shurygina, Maria F., Shchagina, Olga A., Vasserman, Natalya N., Vasilyeva, Tatyana A., Kutsev, Sergey I., Zinchenko, Rena A.
Publicado 2020

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy

por Shurygina, Maria F., Simonett, Joseph M., Parker, Maria A., Mitchell, Amanda, Grigorian, Florin, Lifton, Jacob, Nagiel, Aaron, Shpak, Alexander A., Dadali, Elena L., Mishina, Irina A., Weleber, Richard G., Yang, Paul, Pennesi, Mark E.
Publicado 2020