Kolexia
Devillard Francoise
Génétique médicale
Hôpital Nord Grenoble
La Tronche, France
56 Activités
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{{person.topmesh1.name}} Déficience intellectuelle Faciès Inversion chromosomique Duplication chromosomique Retard mental lié à l'X Trisomie Translocation génétique Anasarque foetoplacentaire Oedème

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Dernières activités

ANAMETAB-PRO: Multicentric Prospective Study to Screen Inborn Errors of Metabolism in Non-immune Hydrops Fetalis by Massively Parallel Sequencing
Essai Clinique (Hospices Civils de Lyon)   19 mars 2024
Familial KCNQ2 mutation: a psychiatric perspective.
Psychiatric genetics   13 décembre 2023
Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.
Clinical genetics   13 mai 2023
Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry.
International journal of molecular sciences   11 février 2023
Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
Clinical genetics   12 décembre 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
American journal of medical genetics. Part A   05 octobre 2022
MYT1L-associated neurodevelopmental disorder: a clinical and molecular description of 37 new cases and literature review
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
What is the best solution to manage failures of chromosomal structural variations detection by short-read strategy?
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Clinical genetics   15 décembre 2021
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
Prenatal diagnosis   11 décembre 2021