Kolexia
Callier Patrick Pharmacien
Callier Patrick
Pharmacien
Pôle de Biologie
Dijon, France
163 Activités
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{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Prédisposition génétique à une maladie Délétion de segment de chromosome Épilepsie Microcéphalie Malformations crâniofaciales Faciès Retard mental lié à l'X

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Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Thauvin-Robinet Christel
Thauvin-Robinet Christel
Hôpital François Mitterrand, Dijon, France
Thevenon Julien
Thevenon Julien
Hôpital Nord Grenoble, La Tronche, France
Mosca Boidron Anne Laure
Mosca Boidron Anne Laure
Pôle de Biologie, Dijon, France

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Dernières activités

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OMIXCARE: OMICS technologiessolved about 33% of the patientswith heterogeneous rareneuro-developmental disordersand negative exome sequencingresults and identified 13%additional candidate variants
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
De novo balanced translocations disrupting the FBN1 gene: an uncommon cause of Marfan syndrome
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
DISSEQ – Double-blind exome and large gene panel sequencing analyses in the first-line diagnosis of 330 patients with intellectual disability (ID): ES superiority for the identification of CNV, variants in new disease-causing genes, and new candidate genes, as well as the advantage of possible prospective reanalysis
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Interest of exome sequencing in non-syndromic specific learning disorders: a French pilot study
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
American journal of human genetics   14 novembre 2023
Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome.
American journal of medical genetics. Part A   12 septembre 2023
Novel role of fluorescent in situ hybridization technique (FISH) in recommended surgical margins of dermatofibrosarcoma protuberans: A preliminary study.
Annales de chirurgie plastique et esthetique   29 août 2023
IA en cytogénétique conventionnelle et moléculaire
Edimark   19 juin 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
medRxiv : the preprint server for health sciences   26 mai 2023
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
American journal of human genetics   17 avril 2023