Kolexia
Beneteau Claire Génétique médicale
Beneteau Claire
Génétique médicale
Hôpital Pellegrin
Bordeaux, France
94 Activités
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{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Anasarque foetoplacentaire Délétion de segment de chromosome Microcéphalie Malformations Cardiopathies congénitales Oedème Anémie hémolytique congénitale

Collaborateurs

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Le Caignec Cedric
Le Caignec Cedric
Hôpital Purpan, Toulouse, France
Joubert Madeleine
Joubert Madeleine
Hôpital Hôtel-Dieu Nantes, Nantes, France
Isidor Bertrand
Isidor Bertrand
Hôpital Hôtel-Dieu Nantes, Nantes, France
Le Vaillant Claudine
Le Vaillant Claudine
Hôpital Hôtel-Dieu Nantes, Nantes, France

Industries

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PASCALEO
2 collaboration(s)
Dernière en 2018
Novartis
1 collaboration(s)
Dernière en 2018
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Dernières activités

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Prenatal-onset hypertrophic cardiomyopathy in 47 patients with RASopathies: understanding phenotype-genotype correlations for risk stratification, medical management and targeted therapies assessment through an international cohort study
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Genetics in medicine : official journal of the American College of Medical Genetics   26 décembre 2023
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
American journal of human genetics   14 novembre 2023
Androgenetic/biparental mosaicism in a diploid mole-like conceptus: report of a case with triple paternal contribution.
Virchows Archiv : an international journal of pathology   11 septembre 2023
O-305窶クext-generation sequencing of a cohort of 100 patients with diminished ovarian reserve reveals an etiology in 27% of cases and may predict the fertility prognosis
39th Hybrid Annual Meeting of the European Society of Human Reproduction and Embryology   22 juin 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
medRxiv : the preprint server for health sciences   26 mai 2023
BAFfling: Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
NOTCH2 related disorders: Description and review of the fetal presentation.
European journal of medical genetics   28 avril 2023
Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
Clinical genetics   12 décembre 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Molecular psychiatry   16 novembre 2022