Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report

por Subasinghe, Chandrika Jayakanthi, Sirisena, Nirmala Dushyanthi, Herath, Chula, Berge, Knut Erik, Leren, Trond Paul, Bulugahapitiya, Uditha, Dissanayake, Vajira Harshadeva Weerabaddana
Publicado 2017

Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation

por Hasselberg, Nina Eide, Haland, Trine Fink, Saberniak, Jørg, Brekke, Pål Haugar, Berge, Knut Erik, Leren, Trond Paul, Edvardsen, Thor, Haugaa, Kristina Hermann
Publicado 2018