Browsing HVL Open by Author "Johansson, Bente Berg"

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Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes

Svalastoga, Pernille; Kaci, Alba; Molnes, Janne; Solheim, Marie Holm; Johansson, Bente Berg; Krogvold, Lars; Skrivarhaug, Torild; Valen, Eivind; Johansson, Stefan; Molven, Anders; Sagen, Jørn Vegard; Søfteland, Eirik; Bjørkhaug, Lise; Tjora, Erling; Aukrust, Ingvild; Njølstad, Pål Rasmus (Peer reviewed; Journal article, 2023)

Aims/hypothesis Correctly diagnosing MODY is important, as individuals with this diagnosis can discontinue insulin injections; however, many people are misdiagnosed. We aimed to develop a robust approach for determining ...