Showing results (11-20 of 17) with videos related to
Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
American Journal of Medical Genetics. Part A|September 9, 2018
LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?Filip Majer, Lenka Piherova, Martin Reboun, et al.ESC Heart Failure|July 14, 2020
Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric studyJiri Gurka, Lenka Piherova, Filip Majer, et al.American Journal of Medical Genetics. Part A|November 16, 2019
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patientFilip Majer, Bohdan Kousal, Petr Dusek, et al.Acta Ophthalmologica|June 14, 2020
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon diseaseBohdan Kousal, Filip Majer, Hana Vlaskova, et al.Orphanet Journal of Rare Diseases|April 7, 2020
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutationsDita Musalkova, Filip Majer, Ladislav Kuchar, et al.Human Molecular Genetics|June 29, 2023
Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndromeAnge-Line Bruel, Anil Kumar Ganga, Lenka Nosková, et al.Human Mutation|February 27, 2026
Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic DiagnosticsLenka Steiner Mrázová, Alena Vrbacká, Filip Majer, et al.Pageof 2