Kolexia
Amiel Jeanne
Génétique médicale
Hôpital Necker Enfants Malades
Paris, France
245 Activités
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{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Prédisposition génétique à une maladie Maladie de Hirschsprung Dysostose mandibulofaciale Syndrome de Pierre Robin Cardiopathies congénitales Maladies des oreilles Dysostoses

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MSD
2 collaboration(s)
Dernière en 2017
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Dernières activités

3q29 duplications: A cohort of 46 patients and a literature review.
American journal of medical genetics. Part A   29 février 2024
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.
Nature communications   22 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
AI-based diagnosis and phenotype – Genotype correlations in syndromic craniosynostoses
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery   05 février 2024
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Scientific reports   28 janvier 2024
Biallelic truncating variants in VGLL2 cause syngnathia in humans
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Dandelion sign, a highly specific neuroradiological feature for the diagnosis of EBF3-related neurodevelopmental disorder?
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a novel neurodevelopmental syndrome associated with altered phosphoinositide signaling
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Unexpected inheritance patterns in a large cohort of patients with a suspected Bardet-Biedl or Alström syndrome
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Bi-allelic variations in CRB2, encoding the Crumbs Cell Polarity Complex Component 2, lead to non-communicating hydrocephalus due to atresia of the Aqueduct of Sylvius and central canal of the medulla
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024