Associated Papers
Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A.
Jourdy Y et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022
Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).
Gavazzi F et al.
Molecular Genetics and Metabolism, 0
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