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Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|August 16, 2014
Prevention of infections during primary immunodeficiencyClaire Aguilar, Marion Malphettes, Jean Donadieu, et al.
British Journal of Haematology|July 24, 2020
Long-term follow-up of children with risk organ-negative Langerhans cell histiocytosis after 2-chlorodeoxyadenosine treatmentMohamed-Aziz Barkaoui, Emma Queheille, Nathalie Aladjidi, et al.
Blood Advances|January 8, 2025
Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWPJulia Fekadu-Siebald, Emilia Salzmann-Manrique, Jan Robert Heusel, et al.
Human Molecular Genetics|December 17, 2013
Cohen syndrome is associated with major glycosylation defectsLaurence Duplomb, Sandrine Duvet, Damien Picot, et al.
American Journal of Medical Genetics. Part A|September 13, 2016
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disabilityAlexandra Gauthier-Vasserot, Christel Thauvin-Robinet, Ange-Line Bruel, et al.
Haematologica|January 12, 2005
Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study GroupJean Donadieu, Thierry Leblanc, Brigitte Bader Meunier, et al.
Blood Advances|September 16, 2022
Lineage switching of the cellular distribution of BRAFV600E in multisystem Langerhans cell histiocytosisPaul Milne, Simon Bomken, Olga Slater, et al.
British Journal of Haematology|August 2, 2021
Recurrent bacterial infections, but not fungal infections, characterise patients with ELANE-related neutropenia: a French Severe Chronic Neutropenia Registry studyGioacchino A Rotulo, Geneviève Plat, Blandine Beaupain, et al.
Orphanet Journal of Rare Diseases|February 5, 2010
Retrospective French nationwide survey of childhood aggressive vascular anomalies of bone, 1988-2009Sébastien Héritier, Martine Le Merrer, Francis Jaubert, et al.
Orphanet Journal of Rare Diseases|September 10, 2020
Childhood Langerhans cell histiocytosis with severe lung involvement: a nationwide cohort studySolenne Le Louet, Mohamed-Aziz Barkaoui, Jean Miron, et al.
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