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Publications by Jean Donadieu
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
American Journal of Human Genetics
Genetics
New Somatic BRAF Splicing Mutation in Langerhans Cell Histiocytosis
Molecular Cancer
Cancer Research
Oncology
Molecular Medicine
Autoimmune and Inflammatory Manifestations Occur Frequently in Patients With Primary Immunodeficiencies
Journal of Allergy and Clinical Immunology
Allergy
Immunology
Cladribine Improves Lung Cysts and Pulmonary Function in a Child With Histiocytosis
European Respiratory Journal
Medicine
Pulmonary
Respiratory Medicine
Identification of Biallelic Germline Variants of SRP68 in a Sporadic Case With Severe Congenital Neutropenia
Haematologica
Hematology
Congenital Neutropenia in the Era of Genomics: Classification, Diagnosis, and Natural History
British Journal of Haematology
Hematology
Langerhans Cell Histiocytosis: Therapeutic Strategy and Outcome in a 30-Year Nationwide Cohort of 1478 Patients Under 18 Years of Age
British Journal of Haematology
Hematology
Incidence and Risk Factors for Clinical Neurodegenerative Langerhans Cell Histiocytosis: A Longitudinal Cohort Study
British Journal of Haematology
Hematology
Altered Chemotactic Response to CXCL12 in Patients Carrying GATA2 Mutations
Journal of Leukocyte Biology
Allergy
Immunology
Cell Biology
Medical Management of Langerhans Cell Histiocytosis From Diagnosis to Treatment
Expert Opinion on Pharmacotherapy
Medicine
Pharmacology
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