Kolexia
Lambert Laetitia Génétique médicale
Lambert Laetitia
Génétique médicale
Maternité de Nancy
Nancy, France
102 Activités
0 Followers
Scientifique
Digital
Production scientifique
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Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Épilepsie Spasticité musculaire Encéphalopathies Paraplégie spasmodique héréditaire Paraplégie Syndrome de Rett Maladies génétiques congénitales Maladies rares

Collaborateurs

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Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Thevenon Julien
Thevenon Julien
Hôpital Nord Grenoble, La Tronche, France
Bonnet Celine
Bonnet Celine
Hôpital Brabois, Vandoeuvre-lès-Nancy, France
Thauvin-Robinet Christel
Thauvin-Robinet Christel
Hôpital François Mitterrand, Dijon, France

Industries

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UCB
2 collaboration(s)
Dernière en 2023
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Dernières activités

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Megalencephaly secondary to a novel germline missense variant p.Asp322Tyr in AKT3 associated with growth hormone deficiency and central hypothyroidism: A case report.
American journal of medical genetics. Part A   08 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
Optical Genome Mapping. Contribution to the Etiological Diagnosis of Developmental disorders : experience of the Nantes Genetic Department on over 60 individuals
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 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
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
MAST1-related mega-corpus-callosum syndrome with central hypogonadism.
European journal of medical genetics   25 septembre 2023
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France.
European journal of medical genetics   14 septembre 2023
Cross-Talk between miRNAs from the Dlk1-Dio3 Locus and Histone Methylation to Protect Male Cerebellum from Methyl Donor Deficiency.
Molecular nutrition & food research   06 septembre 2023
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Journal of medical genetics   16 août 2023
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Clinical genetics   14 août 2023