Kolexia
Lacaze Elodie Génétique médicale
Lacaze Elodie
Génétique médicale
Santra Plus
Le Havre, France
41 Activités
0 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Prédisposition génétique à une maladie Tumeurs de l'ovaire Pancréatite chronique Crises épileptiques Délétion de segment de chromosome Pancréatite Spasticité musculaire Paraplégie spasmodique héréditaire

Collaborateurs

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Nambot Sophie
Nambot Sophie
Hôpital les Chanaux, Mâcon, France
Tran Mau Them Frederic
Tran Mau Them Frederic
Hôpital François Mitterrand, Dijon, France
Genevieve David
Genevieve David
Hôpital Arnaud de Villeneuve, Limoges, France
Lambert Laetitia
Lambert Laetitia
Maternité de Nancy, Nancy, France

Industries

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MSD
2 collaboration(s)
Dernière en 2023
AstraZeneca
2 collaboration(s)
Dernière en 2022
Lilly
1 collaboration(s)
Dernière en 2023
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{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

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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
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
European journal of human genetics : EJHG   23 octobre 2023
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Journal of medical genetics   16 août 2023
Solo-RNA sequencing of blood combined with trio-genome sequencing decipher molecular diagnostic of Neurodevelopmental Disorders
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN study group.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]   20 avril 2023
Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis.
Frontiers in genetics   20 avril 2023
The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]   05 décembre 2022
A prospective study highlighting the increasing role of multiple molecular diagnoses in the field of rare diseases
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain : a journal of neurology   23 février 2022
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain : a journal of neurology   23 septembre 2021