A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants

por Shurygina, Maria F., Parker, Maria A., Schlechter, Catie L., Chen, Rui, Li, Yumei, Weleber, Richard G., Yang, Paul, Pennesi, Mark E.
Publicado 2019

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