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Aniridia with PAX6 mutations and narcolepsy.
Berntsson SG, Kristoffersson A, Daniilidou M, Dahl N, Ekström C, Semnic R, Markström A, Niemelä V, Partinen M, Hallböök F, Landtblom AM. Berntsson SG, et al. Among authors: kristoffersson a. J Sleep Res. 2020 Dec;29(6):e12982. doi: 10.1111/jsr.12982. Epub 2020 Jan 14. J Sleep Res. 2020. PMID: 31943460
Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy.
Berntsson SG, Matsson H, Kristoffersson A, Niemelä V, van Duyvenvoorde HA, Richel-van Assenbergh C, van der Klift HM, Casar-Borota O, Frykholm C, Landtblom AM. Berntsson SG, et al. Among authors: kristoffersson a. Front Genet. 2023 Sep 19;14:1226766. doi: 10.3389/fgene.2023.1226766. eCollection 2023. Front Genet. 2023. PMID: 37795243 Free PMC article.
134 results