Kolexia
Lacombe Didier Génétique médicale
Lacombe Didier
Génétique médicale
Camsp Polyvalent
Bordeaux, France
401 Activités
790 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Prédisposition génétique à une maladie Maladie de Fabry Syndrome de Rubinstein-Taybi Délétion de segment de chromosome Faciès Maladies rares Microcéphalie

Collaborateurs

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Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Rooryck-Thambo Caroline
Rooryck-Thambo Caroline
Hôpital Pellegrin, Bordeaux, France
Goizet Cyril
Goizet Cyril
Hôpital Pellegrin, Bordeaux, France
Verloes Alain
Verloes Alain
Hôpital Robert-Debré, Paris, France

Industries

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Sanofi
45 collaboration(s)
Dernière en 2023
Amicus Therapeutics
20 collaboration(s)
Dernière en 2023
GNM Healthcare Consulting Ireland, Ltd
5 collaboration(s)
Dernière en 2020
Takeda Pharmaceutical
5 collaboration(s)
Dernière en 2023

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
MOSAÏQUE: Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism. National Multicentre Descriptive Study.
Essai Clinique (CHU Dijon-Bourgogne)   20 février 2024
Expand neonatal screening.
La Revue du praticien   05 février 2024
Treatment-related benefit and satisfaction in patients with Fabry disease: Insight into patients' expectations and preferences from the SATIS-Fab study
Molecular genetics and metabolism   01 février 2024
Data (gold) mining in genomic databases subsequent to intensive prospective bibliographic monitoring: a substantial diagnostic rate
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
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Homozygous variants in SPAST cause severe epileptic encephalopathy
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Working towards the ERN ITHACA international consensus statement on the Diagnosis and Management in Rubinstein-Taybi Syndrome
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
DEPISMA: a prefiguring newborn screening project for spinal muscular atrophy in France
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