Kolexia
Dubourg Christele Pharmacien
Dubourg Christele
Pharmacien
Hôpital Pontchaillou
Rennes, France
124 Activités
0 Followers
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{{person.topmesh1.name}} Déficience intellectuelle Holoprosencéphalie Malformations multiples Prédisposition génétique à une maladie Épilepsie Délétion de segment de chromosome Malformations Encéphalopathies Cardiopathies congénitales

Collaborateurs

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Odent Sylvie
Odent Sylvie
Hôpital Sud Rennes, Rennes, France
Pasquier Laurent
Pasquier Laurent
Hôpital Sud Rennes, Rennes, France
David Veronique
David Veronique
Hôpital Pontchaillou, Rennes, France
Jaillard Sylvie
Jaillard Sylvie
Hôpital Pontchaillou, Rennes, France

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ConsuMed Research
1 collaboration(s)
Dernière en 2018
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Dernières activités

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Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report.
Clinical genetics   22 février 2024
O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects
2024 ACMG Annual Clinical Genetics Meeting   01 janvier 2024
isolated median alveolar cleft: mild manifestation of familial frontorhiny with homozygous ALX3 pathogenic variant
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Syntelencephaly (Middle interhemispheric variant): an holoprosencephaly (HPE) like the others?
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Digenic inheritance of PAX3 and SFRP5 underlies syndromic myelomeningocele
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics   26 décembre 2023
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Brain : a journal of neurology   01 décembre 2023
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
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genetics in medicine : official journal of the American College of Medical Genetics   30 octobre 2023