Deborah Mechin
Montpellier, France
Last Updated: 09/26/2026
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Found 9 publications
A new digenic inheritance of proteasome-associated autoinflammatory syndrome involving the PSMA6 gene.
Journal: The journal of allergy and clinical immunology. In practice
Published: March 17, 2025
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.
Journal: European journal of human genetics : EJHG
Published: April 04, 2022
First report of MEFV gene duplication in a patient with familial Mediterranean fever.
Journal: Clinical and experimental rheumatology
Published: July 31, 2020
TNFR1-d2 carrying the p.(Thr79Met) pathogenic variant is a potential novel actor of TNFα/TNFR1 signalling regulation in the pathophysiology of TRAPS.
Journal: Scientific reports
Published: September 26, 2019
PSMB10, the last immunoproteasome gene missing for PRAAS.
Journal: The Journal of allergy and clinical immunology
Published: May 20, 2019
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies.
Journal: The Journal of molecular diagnostics : JMD
Published: January 22, 2016
FUBP1: a new protagonist in splicing regulation of the DMD gene.
Journal: Nucleic acids research
Published: February 10, 2015
Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.
Journal: European journal of human genetics : EJHG
Published: April 19, 2012
Showing 1-9 of 9
Last Updated: 09/26/2026