• Difficult birth is the main contributor to birth‐related fracture and accidents to other neonatal fractures 

      Högberg, Ulf; Fellman, Vineta; Thiblin, Ingemar; Karlsson, Ruth; Wester, Knut (Journal article; Peer reviewed, 2020)
      Aim Specific birth-related fractures have been studied; underestimates might be a problem. We aimed to assess all fractures diagnosed as birth-related as well as other neonatal fractures. Methods A population-based ...
    • Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease 

      Hikmat, Omar; Isohanni, Pirjo; Keshavan, Nandaki; Ferla, Matteo P.; Fassone, Elisa; Abbott, Mary-Alice; Bellusci, Marcello; Darin, Niklas; Dimmock, David; Ghezzi, Daniele; Houlden, Henry; Invernizzi, Federica; Kamarus Jaman, Nazreen B.; Kurian, Manju A.; Morava, Eva; Naess, Karin; Ortigoza-Escobar, Juan Darío; Parikh, Sumit; Pennisi, Alessandra; Barcia, Giulia; Tylleskär, Karin; Brackman, Damien; Wortmann, Saskia B.; Taylor, Jenny C.; Bindoff, Laurence Albert; Fellman, Vineta; Rahman, Shamima (Journal article; Peer reviewed, 2021)
      Objective To delineate the full phenotypic spectrum of BCS1L-related disease, provide better understanding of the genotype–phenotype correlations and identify reliable prognostic disease markers. Methods We performed ...