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The Journal of Clinical Investigation|January 23, 2025
Human oncostatin M deficiency underlies an inherited severe bone marrow failure syndromeAlexandrine Garrigue, Laëtitia Kermasson, Sandrine Susini, et al.
The Journal of Clinical Investigation|September 3, 2024
Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiencyMarta Benavides-Nieto, Frédéric Adam, Emmanuel Martin, et al.
Journal of Clinical Immunology|August 27, 2017
Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe OutcomeAurélien Guffroy, Rachel Mourot-Cottet, Laurence Gérard, et al.
The Journal of Experimental Medicine|August 30, 2024
RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activationAnne Doye, Paul Chaintreuil, Chantal Lagresle-Peyrou, et al.
Human Molecular Genetics|January 28, 2020
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndromeManame Benyelles, Marie-Françoise O'Donohue, Laëtitia Kermasson, et al.
Nature Genetics|December 2, 2008
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafnessChantal Lagresle-Peyrou, Emmanuelle M Six, Capucine Picard, et al.
Kidney International|September 15, 2022
Human kidney-derived hematopoietic stem cells can support long-term multilineage hematopoiesisSteicy Sobrino, Chrystelle Abdo, Bénédicte Neven, et al.
Molecular Therapy. Methods & Clinical Development|April 24, 2020
Successful Preclinical Development of Gene Therapy for Recombinase-Activating Gene-1-Deficient SCIDLaura Garcia-Perez, Marja van Eggermond, Lieke van Roon, et al.
Cell Reports. Medicine|January 27, 2023
Severe hematopoietic stem cell inflammation compromises chronic granulomatous disease gene therapySteicy Sobrino, Alessandra Magnani, Michaela Semeraro, et al.
The Journal of Allergy and Clinical Immunology|July 14, 2016
X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) geneChantal Lagresle-Peyrou, Sonia Luce, Farid Ouchani, et al.
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