Identifizierung von neuen und seltenen Hyperinsulinsmusformen/-genen
Bisherige Publikationen
- Congenital Hyperinsulinism in Humans and Insulin Secretory Dysfunction in Mice Caused by Biallelic DNAJC3 VariantsWelters W, Nortmann O, Wörmeyer L, Freiberg C, Eberhard D, Bachmann N, Bergmann C, Mayatepek E, Meissner T, Kummer S
- Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects.Kummer S, Rinné S, Seemann G, Bachmann N, Timothy K, Thornton PS, Pillekamp F, Mayatepek E, Bergmann C, Meissner T, Decher N
- Diazoxide-responsive Hyperinsulinaemic Hypoglycaemia in Tyrosinaemia type 1Sotiridou E, Hoermann H, Aftab S, Dastamani A, Thimm E, Doodson L, Batzios S, Kummer S, Shah P
- Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinemic hypoglycemiaHoermann H, El-Rifai O, Schebek M, Lodefalk M, Brusgaard K, Bachmann N, Bergmann O, Roeper M, Welters A, Salimi Dafsari R, Blankenstein O, Mayatepek E, Christesen H, Meissner T, Kummer S
- Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein- Taybi syndromeWelters A*, Khairi R*, Dastamani A, Bachmann N, Bergmann C, Gilbert C, Clement C, Hurst J, Quercia N, Wasserman J, Meissner T, Shah P*, Kummer S* *contributed equally