Svetlana V. Kuznetsova

1 та иш

Research Centre for Medical Genetics, Moskvorechye st., 1, Moscow 115522, 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