Kolexia
Raymond Laure Pharmacien
Raymond Laure
Pharmacien
Lbm Eurofins Biomnis Lyon 7
Lyon, France
93 Activités
484 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Maladies du rein Paraplégie spasmodique héréditaire Polykystoses rénales Spasticité musculaire Microangiopathies thrombotiques Paraplégie Insuffisance rénale chronique Polykystose rénale autosomique dominante Déficience intellectuelle

Collaborateurs

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Mesnard Laurent
Mesnard Laurent
Hôpital Tenon, Paris, France
Doreille Alice
Doreille Alice
Hôpital Tenon, Paris, France
Robert Thomas
Robert Thomas
Hôpital La Conception, Marseille, France
Lebre Anne-Sophie
Lebre Anne-Sophie
Maison Blanche, Reims, France

Industries

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The MarkeTech Group SARL
1 collaboration(s)
Dernière en 2018
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Dernières activités

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SeqOneRank+: a machine learning model to rank genetic variants based on phenotypes and ACMG criteria
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Mining the pharmacogenetic treasure in exome sequencing data
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Value of exome sequencing “first” for autosomal dominant polycystic kidney disease
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Long read sequencing for clinical routine diagnosis of a recessive disease – Proof of concept
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Mitochondrial nephropathy: MT-TL1 m.3243A>G mitochondrial DNA variant detected from whole exome sequencing can explain cases of adult unknown nephropathies
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Al Kaissi syndrome : a novel cohort of 15 patients with biallelic variations in the CDK10 gene : functional analysis, phenotypic description and review of the literature
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Monoallelic Loss of Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype.
American journal of kidney diseases : the official journal of the National Kidney Foundation   14 octobre 2023
Incidental and secondary findings in trio exome sequencing
Genes & diseases   11 octobre 2023
Role of the I416L Variant of Complement Factor I in Thrombotic Microangiopathy Among Patients of African Ancestry.
Kidney international reports   11 août 2023