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American Journal of Human Genetics|May 8, 2021
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunctionBobby G Ng, Paulina Sosicka, François Fenaille, et al.Haemophilia : the Official Journal of the World Federation of Hemophilia|December 6, 2024
International Society on Thrombosis and Haemostasis Clinical Practice Guideline for Treatment of Congenital Haemophilia-A Critical AppraisalManuela Albisetti, Jesús Ardila, Jan Astermark, et al.Haemophilia : the Official Journal of the World Federation of Hemophilia|December 9, 2024
Contrasting Approaches in the Implementation of GRADE Methodology in Guidelines for Haemophilia and Von Willebrand DiseaseMark W Skinner, Manuela Albisetti, Jesús Ardila, et al.Nature Communications|December 21, 2017
Type I interferon-mediated autoinflammation due to DNase II deficiencyMathieu P Rodero, Alessandra Tesser, Eva Bartok, et al.BMJ Open|July 28, 2018
Determinants of adherence and consequences of the transition from adolescence to adulthood among young people with severe haemophilia (TRANSHEMO): study protocol for a multicentric French national observational cross-sectional studyNoémie Resseguier, Natacha Rosso-Delsemme, Any Beltran Anzola, et al.Pageof 6