Jacqueline Bou
Rouen, 76000, France
Last Updated: 09/26/2026
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Found 11 publications
Li-Fraumeni syndrome: a germline TP53 splice variant reveals a novel physiological alternative transcript.
Journal: Journal of medical genetics
Published: October 21, 2024
SMAD4 mosaicism in juvenile polyposis: Essential contribution of somatic analysis in diagnosis.
Journal: American journal of medical genetics. Part A
Published: February 02, 2024
Blood functional assay for rapid clinical interpretation of germline TP53 variants.
Journal: Journal of medical genetics
Published: April 01, 2020
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.
Journal: European journal of human genetics : EJHG
Published: November 22, 2019
Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas.
Journal: Acta neuropathologica communications
Published: September 18, 2019
Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes.
Journal: European journal of human genetics : EJHG
Published: November 27, 2017
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.
Journal: Journal of medical genetics
Published: August 11, 2017
Mu and delta opioid receptor knockout mice show increased colonic sensitivity.
Journal: European journal of pain (London, England)
Published: September 09, 2016
Predictive Value of NRAMP1 and HGPX1 Gene Polymorphism for Maintenance BCG Response in Non-muscle-invasive Bladder Cancer.
Journal: Anticancer research
Published: December 18, 2015
Protective effects of n-6 fatty acids-enriched diet on intestinal ischaemia/reperfusion injury involve lipoxin A4 and its receptor.
Journal: British journal of pharmacology
Published: April 24, 2014
Showing 1-11 of 11
Last Updated: 09/26/2026