Kolexia
Till Marianne Génétique médicale
Till Marianne
Génétique médicale
Hôpital Femme Mère Enfant
Bron, France
88 Activités
2 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Délétion de segment de chromosome Épilepsie Maladies chromosomiques Trisomie Aberrations des chromosomes Microcéphalie Translocation génétique

Collaborateurs

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Sanlaville Damien
Sanlaville Damien
Hôpital Femme Mère Enfant, Bron, France
Lesca Gaetan
Lesca Gaetan
Hôpital Femme Mère Enfant, Bron, France
Schluth-Bolard Caroline
Schluth-Bolard Caroline
Hôpital Civil, Strasbourg, France
Chatron Nicolas
Chatron Nicolas
Hôpital Louis Pradel, Bron, France

Industries

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Merck-Serono
1 collaboration(s)
Dernière en 2022
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Dernières activités

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Streamlining cytogenetics analysis of genome sequencing data: a comprehensive guide for Balanced Structural Variants
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
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.
Pediatric neurology   24 août 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
RAB11B-associated neurodevelopmental disorder - confirmed and extended to milder manifestations through 13 individuals with 5 novel variants
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
Clinical genetics   19 janvier 2023
Diagnostic yield of targeted monogenic epilepsies genes panel sequencing: report of our experience in Lyon, France
14\u003csup\u003eth\u003c/sup\u003e European Epilepsy Congress Geneva, Switzerland \u0026amp; Online 9–13 July 2022   16 septembre 2022
10 years of CGH for epilepsy indication at the University Hospital of Lyon (France) – diagnostic yield, identified CNVs and strategy in the genome sequencing era
14\u003csup\u003eth\u003c/sup\u003e European Epilepsy Congress Geneva, Switzerland \u0026amp; Online 9–13 July 2022   16 septembre 2022
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Genetics in medicine : official journal of the American College of Medical Genetics   11 février 2022
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
Prenatal diagnosis   11 décembre 2021