Elizabeth G. Panchenko

1 ta ish

Department of General and Medical Genetics, Pirogov Russian National Research Medical University, Ostrovityanova st., 1, Moscow 117997, Russia

1. Clinical and Genetic Characterization of a Russian Family with Bardet–Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in BBS7 Gene

   Alexandra F. Nikolaeva, Timur V. Boyko, Vitaly V. Kadyshev +9

   MaqolaGenetic and Kidney Cyst DiseasesGenes20260 iqtibos

   ABIABI:AkademIndex/openalex/2026.article.023311