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European Journal of Human Genetics : EJHG|January 12, 2012
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomaliesAndrée Delahaye, Pierre Bitoun, Séverine Drunat, et al.
Respiration; International Review of Thoracic Diseases|September 13, 2021
Impact of Gender on the Characteristics of Patients with Idiopathic Pulmonary Fibrosis Included in the RaDiCo-ILD CohortVincent Cottin, Sonia Gueguen, Stéphane Jouneau, et al.
The Journal of Investigative Dermatology|September 13, 2019
Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic UrticariaEman Assrawi, Camille Louvrier, Clémence Lepelletier, et al.
American Journal of Human Genetics|June 16, 2015
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial SpokesLudovic Jeanson, Bruno Copin, Jean-François Papon, et al.
The Journal of Clinical Endocrinology and Metabolism|November 8, 2016
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated PatientsEnzo Cohen, Mohamad Maghnie, Nathalie Collot, et al.
Human Molecular Genetics|November 10, 2011
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in childrenFlorence Flamein, Laure Riffault, Céline Muselet-Charlier, et al.
The Journal of Allergy and Clinical Immunology|July 5, 2022
RNF213-associated urticarial lesions with hypercytokinemiaCamille Louvrier, Fawaz Awad, Anne Cosnes, et al.
ACR Open Rheumatology|November 29, 2019
The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational EventFawaz Awad, Eman Assrawi, Claire Jumeau, et al.
Orphanet Journal of Rare Diseases|December 5, 2019
Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosisRaphael Borie, Caroline Kannengiesser, Laurent Gouya, et al.
Theranostics|March 14, 2025
Interleukin-34 orchestrates bone formation through its binding to bone morphogenic proteinsJavier Muñoz-Garcia, Jorge W Vargas-Franco, Kristina Schiavone, et al.
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