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pro vyhledávání: '"Julia Grasegger"'
Autor:
Michael R. Bowl, Elsa Rossignol, Mattéa J. Finelli, Enrico Castroflorio, Lauren Chessum, Davide Aprile, Anna Fassio, Andrew R. Bassett, Alexis Lupien-Meilleur, Philippe M. Campeau, Julia Grasegger, Peter L. Oliver, Matteo T. Degiacomi, Matteo Moschetta, Fabio Benfenati, Alexander Jeans
Publikováno v:
Human Molecular Genetics
Human molecular genetics, 2019, Vol.28(4), pp.584-597 [Peer Reviewed Journal]
Human molecular genetics, 2019, Vol.28(4), pp.584-597 [Peer Reviewed Journal]
Mutations in the Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 (TBC1D24) gene are associated with a range of inherited neurological disorders, from drug-refractory lethal epileptic encephalopathy and DOORS syndrome (deafness, onychodystrophy, osteod