Kolexia
Jedraszak Guillaume
Génétique médicale
Centre Hospitalier D'Amiens Salouël Site Sud
Salouël, France
56 Activités
107 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Maladies chromosomiques Cardiopathies congénitales Malformations multiples Déficience intellectuelle Délétion de segment de chromosome Malformations oculaires Aberrations des chromosomes Aneuploïdie Cardiomyopathies

Industries

Boston Scientific
1 collaboration(s)
Dernière en 2018
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Dernières activités

3q29 duplications: A cohort of 46 patients and a literature review.
American journal of medical genetics. Part A   29 février 2024
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.
Clinical genetics   14 février 2024
Prevalence and Significance of Rare Genetic Variants in in Inherited Cardiac Diseases.
Circulation. Genomic and precision medicine   23 janvier 2024
STIM2 is involved in the regulation of apoptosis and the cell cycle in normal and malignant monocytic cells.
Molecular oncology   17 janvier 2024
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
Circulation. Genomic and precision medicine   07 décembre 2023
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
Prognostic Value and Functional Consequences of Calcium Signalling in Acute Myeloid Leukaemia
65th ASH Annual Meeting Abstracts   02 novembre 2023
A most unusual phenotype in a patient with a mosaic ASXL1 deletion
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 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
Myocardial infarction in women under 50: Possible implication of clonal haematopoiesis of indetermined potential.
Archives of cardiovascular diseases   05 janvier 2023