Kolexia
Vekemans Michel Génétique médicale
Vekemans Michel
Génétique médicale
Hôpital Necker Enfants Malades
Paris, France
81 Activités
0 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Malformations multiples Déficience intellectuelle Syndrome de Down Microcéphalie Trisomie Prédisposition génétique à une maladie Agénésie du corps calleux Hydrocéphalie Syndromes oro-facio-digitaux

Collaborateurs

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Attie-Bitach Tania
Attie-Bitach Tania
Hôpital Necker Enfants Malades, Paris, France
Malan Valerie
Malan Valerie
Hôpital Necker Enfants Malades, Paris, France
Munnich Arnold
Munnich Arnold
Hôpital Américain de Paris, Neuilly-sur-Seine, France
Razavi Ferechte
Razavi Ferechte
Hôpital Necker Enfants Malades, Paris, France

Industries

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UCB
5 collaboration(s)
Dernière en 2022
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Dernières activités

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Believing in science.
Birth defects research   08 janvier 2023
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
Birth defects research   15 avril 2022
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
American journal of medical genetics. Part A   23 juillet 2021
SAFE 21: Non Invasive Prenatal Testing of Down Syndrome From Maternal Blood Sample
Essai Clinique (Assistance publique – Hôpitaux de Paris)   23 mars 2021
Cost-effectiveness of five prenatal screening strategies for trisomies and other unbalanced chromosomal abnormalities: model-based analysis.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology   24 avril 2020
Une attitude scientifique
Congrès AM-CHEC 2019   01 novembre 2019
structural chromosomal rearrangements by whole genome sequencing: results of the ANI project, a French collaborative study including 55 patients with intellectual disability and/or congenital malformations
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
American journal of medical genetics. Part A   20 mai 2019
Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology   17 avril 2019
Women's Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome.
JAMA network open   01 mars 2019