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European Journal of Medical Genetics|January 9, 2018
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotypeJana Paderova, Jana Drabova, Andrea Holubova, et al.Clinical Kidney Journal|June 30, 2025
Czech nationwide screening for Fabry disease in patients on maintenance dialysis: a call for evaluation of population-enriched GLA gene variants of uncertain significanceIvan Rychlík, Lidmila Francová, Gabriela Dostálová, et al.Frontiers in Medicine|January 3, 2024
The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhoodDana Thomasová, Michaela Zelinová, Malgorzata Libik, et al.Pageof 2