Kolexia
Alembik Yves
Pédiatrie
Cabinet libéral
Strasbourg, France
70 Activités
46 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Aberrations des chromosomes Malformations multiples Déficience intellectuelle Trisomie Malformations Syndrome de Down Maladies chromosomiques Délétion de segment de chromosome Amélogenèse imparfaite

Industries

Sanofi
2 collaboration(s)
Dernière en 2023
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Dernières activités

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Molecular genetics & genomic medicine   30 janvier 2024
Associated anomalies in anophthalmia and microphthalmia.
European journal of medical genetics   16 décembre 2023
Associated anomalies in cases with achondroplasia.
European journal of medical genetics   20 septembre 2022
Biallelic loss of function variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities and immune dysregulation
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Clinical and molecular study of a cohort of 79 patients with a pathogenic variation in GDF5 gene and review of the literature
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Co-occurring anomalies in congenital oral clefts.
American journal of medical genetics. Part A   18 février 2022
coding variants in the gene cause a neurodevelopmental disorder with intellectual disability.
Journal of medical genetics   15 décembre 2021
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genetics in medicine : official journal of the American College of Medical Genetics   30 novembre 2021
Syndrome de Kleefstra
HAS Publications   14 octobre 2021
Amélogenèses imparfaites
HAS Publications   06 septembre 2021