Kolexia
David Albert Génétique médicale
David Albert
Génétique médicale
CHU Nantes
Nantes, France
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{{person.topmesh1.name}} Déficience intellectuelle Délétion de segment de chromosome Malformations multiples Microcéphalie Faciès Ostéochondrodysplasies Maladies chromosomiques Cardiopathies congénitales Épilepsie

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Isidor Bertrand
Isidor Bertrand
Hôpital Hôtel-Dieu Nantes, Nantes, France
Le Caignec Cedric
Le Caignec Cedric
Hôpital Purpan, Toulouse, France
Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Toutain Annick
Toutain Annick
Centre hospitalier de Tours, Tours, France

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Dernières activités

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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
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Genetics in medicine : official journal of the American College of Medical Genetics   03 août 2021
of functional consequences of three loss-of-function mutations affecting long and short AUTS2 isoforms
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019
Duplication of 10q24 locus: broadening the clinical and radiological spectrum
Abstracts from the 51st European Society of Human Genetics (ESHG) Conference, in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)   01 juillet 2019
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
NPJ genomic medicine   01 juillet 2019
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
Journal of medical genetics   22 avril 2019
Duplication of 10q24 locus: broadening the clinical and radiological spectrum.
European journal of human genetics : EJHG   08 janvier 2019
Familial autosomal dominant severe ankyloglossia with tooth abnormalities.
American journal of medical genetics. Part A   28 avril 2018
Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
Journal of medical genetics   04 avril 2018
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
NPJ genomic medicine   23 octobre 2017