Université de Nantes
17 imported, source-linked research records. Open-access records.
17 matching research records
Topic: Somatic mosaicism. Only records linked to Université de Nantes are included. Historical ingestion is still running; these are imported records, not a count of all research worldwide.
Showing 1–17 of 17 matching records. Counts update as records arrive.
A personalized medicine approach identifies enasidenib as an efficient treatment for IDH2 mutant chondrosarcoma
March 27, 2024 · 13 citations · Open access
Open original record →Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation
February 28, 2024 · 50 citations · Open access
Open original record →Preneoplastic liver colonization by 11p15.5 altered mosaic cells in young children with hepatoblastoma
November 6, 2023 · 15 citations · Open access
Open original record →Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation
September 22, 2023 · 3 citations · Open access
Open original record →Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry
June 15, 2023 · 67 citations · Open access
Open original record →Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
April 5, 2021 · 66 citations · Open access
Open original record →Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder
February 20, 2021 · 2 citations · Open access
Open original record →DLG4-related synaptopathy: a new rare brain disorder
February 20, 2021 · 62 citations · Open access
Open original record →Cytokine Signature in Schnitzler Syndrome: Proinflammatory Cytokine Production Associated to Th Suppression
November 26, 2020 · 25 citations · Open access
Open original record →De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
May 14, 2020 · 16 citations · Open access
Open original record →Intrathymic adeno-associated virus gene transfer rapidly restores thymic function and long-term persistence of gene-corrected T cells
September 9, 2019 · 17 citations · Open access
Open original record →Delineating FOXG1 syndrome
November 7, 2018 · 79 citations · Open access
Open original record →IDH mutation status in a series of 88 head and neck chondrosarcomas: different profile between tumors of the skull base and tumors involving the facial skeleton and the laryngotracheal tract
October 5, 2018 · 47 citations · Open access
Open original record →Update on hypoxia-inducible factors and hydroxylases in oxygen regulatory pathways: from physiology to therapeutics
March 1, 2017 · 37 citations · Open access
Open original record →Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study
February 5, 2016 · 157 citations · Open access
Open original record →Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain
January 1, 2015 · 9 citations · Open access
Open original record →Diagnostic value of investigating GNAS mutations in fibro-osseous lesions: a retrospective study of 91 cases of fibrous dysplasia and 40 other fibro-osseous lesions
February 1, 2013 · 113 citations · Open access
Open original record →