Claudia Djambas Khayat

Efficacy and safety of rVIII-SingleChain: results of a phase 1/3 multicenter clinical trial in severe hemophilia A

Johnny Mahlangu, Kazimierz Kuliczkowski, Faraizah Abdul Karim et al. · Blood · 2016 · 85 citations · Full text

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

Xiao‐Fei Kong, Guillaume Vogt, Yuval Itan et al. · Human Molecular Genetics · 2012 · 63 citations · Full text

Immunodeficiencies, Genetics, Immunology +28

Complementation of a pathogenic <i>IFNGR2</i> misfolding mutation with modifiers of N-glycosylation

Guillaume Vogt, Jacinta Bustamante, Ariane Chapgier et al. · The Journal of Experimental Medicine · 2008 · 62 citations · Full text

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

Nadine Jalkh, Sandra Corbani, Nadine Hamdan et al. · BMC Medical Genomics · 2019 · 56 citations · Full text

Clinical phenotype, fibrinogen supplementation, and health-related quality of life in patients with afibrinogenemia

Alessandro Casini, Sylvia von Mackensen, Cristina Santoro et al. · Blood · 2021 · 38 citations · Full text