Kolexia
Ferec Claude
Médecine générale
Efs Bretagne Brest Morvan
Brest, France
368 Activités
228 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Pancréatite Pancréatite chronique Mucoviscidose Prédisposition génétique à une maladie Fibrose Hémochromatose Polykystose rénale autosomique dominante Polykystoses rénales Maladies du rein

Industries

AstraZeneca
1 collaboration(s)
Dernière en 2019
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Dernières activités

Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.
Human genomics   27 février 2024
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Genetics in medicine : official journal of the American College of Medical Genetics   27 janvier 2024
The Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p.Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects in Cystic Fibrosis Cells.
Cells   18 janvier 2024
An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.
American journal of medical genetics. Part A   08 janvier 2024
Tissue-specific cis-regulation of the CFTR gene
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Genetic and functional analysis of chymotrypsin-like protease (CTRL) in chronic pancreatitis
European Pancreatic Club 2023 Abstracts   05 novembre 2023
Genetic and functional analysis of chymotrypsin-like protease (CTRL) in chronic pancreatitis.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]   04 novembre 2023
Le roman "Georges, matricule... - Editions Poussière de Lune - Facebook
Facebook   15 juillet 2023
Tissue-Specific Regulation of Gene Expression.
International journal of molecular sciences   26 juin 2023
P102 Clear illustration of improved survival in cystic fibrosis using the Kaplan-Meier method: the 50-year experience of Brittany, France
Abstracts of the 46th European Cystic Fibrosis Conference   01 juin 2023