Kolexia
David Veronique Pharmacien
David Veronique
Pharmacien
Hôpital Pontchaillou
Rennes, France
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{{person.topmesh1.name}} Holoprosencéphalie Déficience intellectuelle Aberrations des chromosomes Prédisposition génétique à une maladie Délétion de segment de chromosome Maladies rares Hémochromatose Malformations Anomalies du tube neural

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Dubourg Christele
Dubourg Christele
Hôpital Pontchaillou, Rennes, France
Odent Sylvie
Odent Sylvie
Hôpital Sud Rennes, Rennes, France
Pasquier Laurent
Pasquier Laurent
Hôpital Sud Rennes, Rennes, France
Quelin Chloe
Quelin Chloe
Hôpital Sud Rennes, Rennes, France

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Dernières activités

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Mice expressing allelic variant or deletion of CHRNA5 show increased alcohol consumption but opposite motivational profiles: Preclinical support for cloninger alcoholic subtypes
2nd World Congress on Alcohol and Alcoholism Joint meeting of ISBRA and ESBRA, 17‐20 September 2022, Cracow, Poland   14 septembre 2022
Mutant mice expressing gene variants of α5 nicotinic receptors as preclinical models of cloninger typology for alcohol use disorders
2nd World Congress on Alcohol and Alcoholism Joint meeting of ISBRA and ESBRA, 17‐20 September 2022, Cracow, Poland   14 septembre 2022
Social emotional profiles of two strains of transgenic mice expressing nicotinic receptor mutations involved in alcohol abuse
2nd World Congress on Alcohol and Alcoholism Joint meeting of ISBRA and ESBRA, 17‐20 September 2022, Cracow, Poland   14 septembre 2022
Scarcity of available information resources for patients and clinicians after a diagnosis of ultra-rare diseases: retrospective on a cohort of 626 individuals with congenital abnormalities and/or intellectual disability
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
How silence shapes the brain: synonymous variants alter codon usage and translation of Sonic Hedgehog in holoprosencephaly
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Genetics of neural tube defects: new candidate genes and complex mode of inheritance
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
Deciphering pharmacogenetic-whole blood/intracellular pharmacokinetic-pharmacodynamic (PG-PK2-PD) relationship of tacrolimus in liver transplant recipients
Abstracts of the Annual Meeting of French Society of Pharmacology and Therapeutics, 15–16 June 2021, E‐meeting, France   02 juin 2021
Disrupted Hypothalamo-Pituitary Axis in Association With Reduced SHH Underlies the Pathogenesis of NOTCH-Deficiency.
The Journal of clinical endocrinology and metabolism   23 février 2021
Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein.
Brain : a journal of neurology   30 décembre 2020
Recessive inheritance of DISP1 variants in holoprosencephaly spectrum patients
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020