Elena A. Shestopalova

1 та иш

Moscow Clinical Scientific Center named after A. S. Loginov, 1 Novogireevskaya st., bldg. 1, Moscow 111123, 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

   МақолаGenetic and Kidney Cyst DiseasesGenes20260 иқтибос

   ABIABI:AkademIndex/openalex/2026.article.023311