Kolexia
Missirian Chantal
Biologie médicale
Hôpital La Timone Enfants
Marseille, France
64 Activités
9 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Délétion de segment de chromosome Malformations multiples Translocation génétique Prédisposition génétique à une maladie Cardiopathies congénitales Maladies génétiques congénitales Épilepsie Syndrome de DiGeorge

Industries

Sanofi
1 collaboration(s)
Dernière en 2019
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Dernières activités

3q29 duplications: A cohort of 46 patients and a literature review.
American journal of medical genetics. Part A   29 février 2024
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
Syndrome de duplication 15q
HAS Publications   13 décembre 2022
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
American journal of medical genetics. Part A   11 novembre 2022
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
Journal of medical genetics   22 septembre 2022
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.
Genes   19 juillet 2022
Large genomic imbalances and phenotype
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients.
European journal of medical genetics   18 février 2022
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Clinical genetics   15 décembre 2021
Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions.
Clinical genetics   15 novembre 2021