Kolexia
Jacquin Clémence Génétique médicale
Jacquin Clémence
Génétique médicale
Hôpital Robert-Debré Reims
Reims, France
16 Activités
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Scientifique
Digital
Production scientifique
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Malformations multiples Microcéphalie Délétion de segment de chromosome Monosomie Hypotonie musculaire Déficience intellectuelle Maladies chromosomiques Tétrasomie Mort foetale

Collaborateurs

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Doco-Fenzy Martine
Doco-Fenzy Martine
Maison Blanche, Reims, France
Poirsier Celine
Poirsier Celine
Maison Blanche, Reims, France
Spodenkiewicz Marta
Spodenkiewicz Marta
Hôpital Saint Pierre, Saint-Pierre, France
Isidor Bertrand
Isidor Bertrand
Hôpital Hôtel-Dieu Nantes, Nantes, France

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Dernières activités

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3q29 duplications: A cohort of 46 patients and a literature review.
American journal of medical genetics. Part A   29 février 2024
Optical Genome Mapping. Contribution to the Etiological Diagnosis of Developmental disorders : experience of the Nantes Genetic Department on over 60 individuals
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
American journal of medical genetics. Part A   11 novembre 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
American journal of medical genetics. Part A   05 octobre 2022
Délétion 1p36
HAS Publications   09 septembre 2022
Aarskog-Scott syndrome: case report and updated-review
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Intra-uterine fetal death in Meier-Gorlin Syndrome due to compound heterozygous variants of ORC6 gene with a novel mutation: a case report
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.
Prenatal diagnosis   05 juillet 2019
A new case of mosaic tetrasomy 15q25.3-qter due to a supernumerary marker chromosome
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019
Microdeletion 1p36 diagnostic follow-up of a cohort of 70 patients diagnosed in France
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