Kolexia
Verloes Alain Génétique médicale
Verloes Alain
Génétique médicale
Hôpital Robert-Debré
Paris, France
320 Activités
6 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Microcéphalie Malformations multiples Syndrome de Noonan Prédisposition génétique à une maladie Maladies rares Épilepsie Faciès Délétion de segment de chromosome

Collaborateurs

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Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Lacombe Didier
Lacombe Didier
Camsp Polyvalent, Bordeaux, France
Passemard Sandrine
Passemard Sandrine
Hôpital Robert-Debré, Paris, France
Odent Sylvie
Odent Sylvie
Hôpital Sud Rennes, Rennes, France

Industries

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Sanofi
1 collaboration(s)
Dernière en 2019
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Dernières activités

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Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Clinical genetics   29 février 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
European journal of human genetics : EJHG   15 février 2024
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder.
European journal of medical genetics   10 février 2024
APOGeE launch: a European medical genetics e-textbook by ERN-ITHACA
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Novel homozygous missense variant in GTF2E2 causes non-photosensitive trichothiodystrophy type 6
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Phenotypic spectrum and genetic landscape of syndromic microcephaly
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
First description of likely pathogenic variants in ACTB causing Baraitser-Winter cerebrofrontofacial syndrome without intellectual disability in two generations
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
The collaboration between the European Society of Human Genetics-Young Committee (ESHG-Y), UNIQUE and ERN-ITHACA: increasing the knowledge on rare genetic disorders for non-native English speakers
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
DISSEQ – Double-blind exome and large gene panel sequencing analyses in the first-line diagnosis of 330 patients with intellectual disability (ID): ES superiority for the identification of CNV, variants in new disease-causing genes, and new candidate genes, as well as the advantage of possible prospective reanalysis
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024