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European Journal of Medical Genetics|January 30, 2022
Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variantTrine Østergaard Nielsen, Morten Krogh Herlin, Karen Markussen Linnet, et al.European Journal of Medical Genetics|May 29, 2025
Variable expressivity of a transmitted pathogenic KAT6B variantNinna Bager Rasmussen, Pernille Axél Gregersen, Trine Østergaard Nielsen, et al.Molecular Genetics and Genomics : MGG|December 28, 2025
The first case of Branchio-oto-renal (BOR) syndrome caused by a deep intronic variant in EYA1Marie Lorans, Kristian Alsbjerg Skipper, Trine Østergaard Nielsen, et al.Pageof 1