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

od 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.
Izdano u BMC Med Genet (2020)

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

od 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.
Izdano u Invest Ophthalmol Vis Sci (2020)