Kolexia
Schneider Anouck
Pharmacien
Hôpital Arnaud de Villeneuve
Limoges, France
29 Activités
4 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Translocation génétique Maladies chromosomiques Malformations multiples Aneuploïdie Chromothripsis Aberrations des chromosomes Syndrome de Klinefelter Tétralogie de Fallot

Industries

EXELTIS SANTE
1 collaboration(s)
Dernière en 2023
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Dernières activités

Chromoanagenesis, the mechanisms of a genomic chaos.
Seminars in cell & developmental biology   16 février 2021
simple and cost-effective method for CNV confirmation and segregation analysis by EvaGreen digital PCR
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
diagnosis and molecular characterization of a jumping translocation leading to 18p monosomy
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
Pathologies des hélicases et vieillissement précoce : modèle d’étude par dérivation de cellules souches pluripotentes induites
Congrès AM-CHEC 2019   01 novembre 2019
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.
Molecular genetics & genomic medicine   07 septembre 2019
Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report.
BMC medical genomics   02 août 2019
Pathologies of helicases and premature ageing study by derivation of induced pluripotent stem cells
Abstracts of the 12th European Cytogenomics Conference 2019   05 juillet 2019
A supernumerary ring chromosome 18 in a fetus with tetralogy of Fallot
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
Pathologies of helicases and premature ageing: study by derivation of induced pluripotent stem cells
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
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
American journal of human genetics   14 mai 2019