Kolexia
Chambon Pascal Pharmacien
Chambon Pascal
Pharmacien
Hôpital Charles Nicolle
Rouen, France
47 Activités
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{{person.topmesh1.name}} Déficience intellectuelle Délétion de segment de chromosome Trisomie Translocation génétique Incontinence anale Prédisposition génétique à une maladie Transformation cellulaire néoplasique Oedème Syndrome de Down

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Frebourg Thierry
Frebourg Thierry
Hôpital Charles Nicolle, Rouen, France
Joly-Helas Geraldine
Joly-Helas Geraldine
Hôpital Charles Nicolle, Rouen, France
Le Meur Nathalie
Le Meur Nathalie
Efs Hdf-norm - Bois-guillaume Siege, Bois-Guillaume, France
Cassinari Kevin
Cassinari Kevin
Hôpital Charles Nicolle, Rouen, France

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AGILENT TECHNOLOGIES FRANCE
1 collaboration(s)
Dernière en 2018
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Dernières activités

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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
American journal of medical genetics. Part A   16 novembre 2023
Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy-like lymphedema: First prenatal case report.
American journal of medical genetics. Part A   21 septembre 2022
Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.
Andrology   07 septembre 2022
Large genomic imbalances and phenotype
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Generation of 17q21.31 duplication iPSC-derived neurons as a model for primary tauopathies.
Stem cell research   22 mars 2022
A, not so robertsonian, translocation!.
Annales de biologie clinique   25 octobre 2021
Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.
Acta neuropathologica communications   06 juin 2021
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
American journal of medical genetics. Part A   27 mai 2021
Assessment of Multiplex Digital Droplet RT-PCR as a Diagnostic Tool for SARS-CoV-2 Detection in Nasopharyngeal Swabs and Saliva Samples.
Clinical chemistry   12 mai 2021
of the Primary Familial Brain Calcification gene SLC20A2 mediated by disruption of a regulatory element
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020