Kolexia
Willems Marjolaine
Génétique médicale
Hôpital Arnaud de Villeneuve
Limoges, France
156 Activités
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{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Épilepsie Microcéphalie Prédisposition génétique à une maladie Troubles de la croissance Malformations Perte d'audition Maladie de Fabry

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Sanofi
5 collaboration(s)
Dernière en 2021
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Dernières activités

BONeMOVE : an Adapted Physical Activity Program (APA) for Effort Rehabilitation of Children and Teenagers With Osteogenesis Imperfecta: an Interventional, Prospective, Regional, Bicentric Study.
Essai Clinique (CHU Toulouse)   27 février 2024
MOSAÏQUE: Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism. National Multicentre Descriptive Study.
Essai Clinique (CHU Dijon-Bourgogne)   20 février 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Molecular genetics & genomic medicine   30 janvier 2024
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Scientific reports   28 janvier 2024
National French retrospective cohort of 22 individuals with kyphoscoliotic Ehlers-Danlos syndrome: emphasis on vascular involvement
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
De novo balanced translocations disrupting the FBN1 gene: an uncommon cause of Marfan syndrome
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Data (gold) mining in genomic databases subsequent to intensive prospective bibliographic monitoring: a substantial diagnostic rate
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Postnatal outcome of children with antenatal colonic hyperechogenicity.
Prenatal diagnosis   06 décembre 2023
REUNIR: Fast Exome for Diagnosis of Congenital Conditions in Infants Under 12 Months of Age Hospitalized in Intensive Care Unit
Essai Clinique (CHU Montpellier)   27 novembre 2023