Kolexia
Sarles-Philip Nicole Génétique médicale
Sarles-Philip Nicole
Génétique médicale
Hôpital La Timone Enfants
Marseille, France
161 Activités
0 Followers
Scientifique
Digital
Production scientifique
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Syndrome de DiGeorge Délétion de segment de chromosome Malformations multiples Faciès Cardiopathies congénitales Syndrome de Marfan Syndrome de délétion 22q11 Microcéphalie

Collaborateurs

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Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Odent Sylvie
Odent Sylvie
Hôpital Sud Rennes, Rennes, France
Lacombe Didier
Lacombe Didier
Camsp Polyvalent, Bordeaux, France
Genevieve David
Genevieve David
Hôpital Arnaud de Villeneuve, Limoges, France

Industries

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Sanofi
1 collaboration(s)
Dernière en 2019
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Dernières activités

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DISSEQ: Medico-economic Evaluation of Different High-throughput Sequencing Strategies in the Diagnosis of Patients With Intellectual Deficiency
Essai Clinique (CHU Dijon-Bourgogne)   18 mars 2024
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
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
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting.
BMC health services research   21 avril 2023
HT-2 | Prenatal Diagnosis of 22q11.2 Deletion Syndrome Improves Perinatal and Infant Outcomes
Abstracts of the ISPD 26th International Conference on Prenatal Diagnosis and Therapy, 19–23 June 2022   03 janvier 2023
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.
Genes   19 juillet 2022
Syndrome de l’X Fragile
HAS Publications   17 août 2021
Syndromes associé au gène SATB2 (SAS)
HAS Publications   29 juillet 2021
A normative chart for cognitive development in a genetically selected population.
Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology   29 mars 2021
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.
Clinical genetics   05 janvier 2021