Kolexia
Latypova Xenia
Biologie médicale
Hôpital Robert-Debré
Paris, France
57 Activités
12 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Arthrogrypose Maladie d'Alzheimer Microcéphalie Maladies musculaires Hypotonie musculaire Prédisposition génétique à une maladie Scoliose Maladies génétiques congénitales

Industries

{{person.topindus1.name}}
{{person.topindus1.tot}} collaboration(s)
Dernière en {{person.topindus1.last}}
{{person.topindus2.name}}
{{person.topindus2.tot}} collaboration(s)
Dernière en {{person.topindus2.last}}
{{person.topindus3.name}}
{{person.topindus3.tot}} collaboration(s)
Dernière en {{person.topindus3.last}}
{{person.topindus4.name}}
{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

Biallelic USP14 variants cause a syndromic neurodevelopmental disorder
Genetics in medicine : official journal of the American College of Medical Genetics   10 mars 2024
Objective evaluation of clinical actionability for genes involved in myopathies: 63 genes with a medical value for patient care
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
Nature communications   04 novembre 2022
Challenges of preconception genetic testing in France: A qualitative study.
European journal of medical genetics   10 septembre 2022
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
Molecular genetics and genomics : MGG   24 août 2022
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
International journal of molecular sciences   31 juillet 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Genome medicine   13 juin 2022
Objective evaluation of clinical actionnability for genes involved in myopathies: 51 promising genes
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations.
Journal of medical genetics   07 décembre 2021
Arthrogryposes multiples congénitales
HAS Publications   20 octobre 2021