Kolexia
Jobic Florence
Génétique médicale
Centre Hospitalier D'Amiens Salouël Site Sud
Salouël, France
16 Activités
42 Followers

Scientifique
Digital
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Nanisme Nanisme MULIBREY Cardiopathies congénitales Malformations crâniofaciales Déficience intellectuelle Malformations Syndrome de Williams Mégalencéphalie Lissencéphalie

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Dernières activités

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
Syndrome cérébrofrontofacial de Baraitser-Winter et syndrome extrapyramidal : une nouvelle présentation phénotypique ?
Journées de Neurologie de Langue Française 2023   01 avril 2023
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Prenatal diagnosis   23 mars 2023
Catatonic syndrome and Baraitser Winter syndrome: Case report and review of the literature.
European journal of medical genetics   06 juillet 2022
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with Variants.
International journal of molecular sciences   13 avril 2022
COLLAGEN RELATED MUSCLE DISEASES: EP.59 Genetic etiology of retractile myopathies in a cohort of 80 children under 11 years following NGS analysis
Neuromuscular disorders : NMD   01 octobre 2021
Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.
American journal of medical genetics. Part A   06 août 2021
Enamel-renal syndrome: identification of two novel non-consanguinous families with mutations in FAM20A gene
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
intragenic rearrangements in non-Finnish MULIBREY nanism
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019
Syndrome: Phenotype and Cytogenetic analyses of a cohort of 44 patients from an international collaborative study
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019