Kolexia
Satre Veronique Génétique médicale
Satre Veronique
Génétique médicale
Hôpital Nord Grenoble
La Tronche, France
71 Activités
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{{person.topmesh1.name}} Infertilité masculine Infertilité Déficience intellectuelle Tératozoospermie Asthénozoospermie Délétion de segment de chromosome Malformations multiples Granulomatose septique chronique Prédisposition génétique à une maladie

Collaborateurs

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Coutton Charles
Coutton Charles
Hôpital Nord Grenoble, La Tronche, France
Devillard Francoise
Devillard Francoise
Hôpital Nord Grenoble, La Tronche, France
Jouk Pierre-Simon
Jouk Pierre-Simon
Hôpital Nord Grenoble, La Tronche, France
Amblard Florence
Amblard Florence
Hôpital Nord Grenoble, La Tronche, France

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Dernières activités

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Expanding MNS1 heterotaxy phenotype
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
American journal of medical genetics. Part A   16 novembre 2023
Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.
eLife   07 novembre 2023
Whole genome sequencing for copy number variation and structural variant analyses
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
A phenotype-gene based graph for symptoms description harmonization and clinically-driven genomic analysis
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral-spectrum
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters.
Journal of genetics and genomics = Yi chuan xue bao   26 avril 2023
Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry.
International journal of molecular sciences   11 février 2023
New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella.
International journal of molecular sciences   29 janvier 2023
duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
Journal of medical genetics   11 novembre 2022