Associated Papers
Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations.
Bandini P et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Gain-of-Function Mutations R249C and S250C in Complement C2 Protein Increase C3 Deposition in the Presence of C-Reactive Protein.
Urban A et al.
Frontiers in Immunology, 2021
34899688 (PubMed )
Supplement: DataSheet_1.pdf
Systemic complement activation and complement gene analysis in enterohaemorrhagic Escherichia coli-associated paediatric haemolytic uraemic syndrome.
Ahlenstiel-Grunow T et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2016
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1164.429
Select a paper to view details