Kolexia
Alex Cordier Marie Pierre Génétique médicale
Alex Cordier Marie Pierre
Génétique médicale
Hospices Civils de Lyon
Bron, France
61 Activités
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{{person.topmesh1.name}} Déficience intellectuelle Faciès Malformations multiples Délétion de segment de chromosome Aberrations des chromosomes Prédisposition génétique à une maladie Anomalies morphologiques congénitales de la main Hémochromatose Maladies chromosomiques

Collaborateurs

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Sanlaville Damien
Sanlaville Damien
Hôpital Femme Mère Enfant, Bron, France
Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Trocme-Goldenberg Alice
Trocme-Goldenberg Alice
Hôpital Charles Nicolle, Rouen, France
Till Marianne
Till Marianne
Hôpital Femme Mère Enfant, Bron, France

Industries

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Alexion
1 collaboration(s)
Dernière en 2017
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Dernières activités

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The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
American journal of human genetics   25 août 2020
Growth charts in Kabuki syndrome 1.
American journal of medical genetics. Part A   26 décembre 2019
WNT10A mutations: refining genotype, phenotype, penetrance, clinical variability and inheritance manner
Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference   01 octobre 2019
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Journal of human genetics   17 septembre 2019
Whole Genome Sequencing of 9 patients allowed a better understanding of complex chromosomal rearrangements
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
correlation in Jeune thoracic dysplasia/short rib-polydactyly type III: review of 130 cases
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019
Recessive spondylocarpotarsal syndrome due to compound heterozygosity for variants in MYH3
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
Detection of mosaic Copy-Number Variations from Whole-Exome Sequencing in mosaic pigmentation disorders using XHMM and a custom SNP approach
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
mutation is a major gene inintellectual disability
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019