Navigation Maladies Rares : Génétique et Métabolisme (MRGM)

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Navigation Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 par Etablissement "INSERM"

Etude génétique et fonctionnelle de l’ataxie spastique autosomique récessive de Charlevoix-Saguenay (ARSACS)

Gestion de la coagulopathie et de la transfusion au cours de la transplantation hépatique : Facteurs de risque de saignement, place du monitorage délocalisé de l’hémostase, étude de la génération de thrombine et de l’hyperfibrinolyse

Identification des contaminants environnementaux agissant comme obésogènes en utilisant les larves de poisson zèbre comme modèle

Prise en charge de l’hyperclarté nucale isolée : enquête auprès des Centres pluridisciplinaires de diagnostic prénatal

Recommendations of the Francophone Network of Pharmacogenetics (RNPGx)

Régulation du métabolisme énergétique : étude du remodelage bioénergétique du cancer

The phenotypic spectrum of CEP250 gene variants

Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Lack of vaccination in ventilated patients for SARS-CoV-2 in France.

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.

Meeting report of the 4th biennial Metabolism and Cancer symposium.

Combinatorial pathway disruption is a powerful approach to delineate metabolic impacts of endocrine disruptors.

The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteins.

Severe phenotype in patients with large deletions of NF1

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

A Mechanism Underpinning the Bioenergetic Metabolism-Regulating Function of Gold Nanocatalysts.

Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.

Navigation Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 par Etablissement "INSERM"

Etude génétique et fonctionnelle de l’ataxie spastique autosomique récessive de Charlevoix-Saguenay (ARSACS) ﻿

Gestion de la coagulopathie et de la transfusion au cours de la transplantation hépatique : Facteurs de risque de saignement, place du monitorage délocalisé de l’hémostase, étude de la génération de thrombine et de l’hyperfibrinolyse ﻿

Identification des contaminants environnementaux agissant comme obésogènes en utilisant les larves de poisson zèbre comme modèle ﻿

Prise en charge de l’hyperclarté nucale isolée : enquête auprès des Centres pluridisciplinaires de diagnostic prénatal ﻿

Recommendations of the Francophone Network of Pharmacogenetics (RNPGx) ﻿

Régulation du métabolisme énergétique : étude du remodelage bioénergétique du cancer ﻿

The phenotypic spectrum of CEP250 gene variants ﻿

Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates. ﻿

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France ﻿

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C ﻿

Lack of vaccination in ventilated patients for SARS-CoV-2 in France. ﻿

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability ﻿

BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome. ﻿

Meeting report of the 4th biennial Metabolism and Cancer symposium. ﻿

Combinatorial pathway disruption is a powerful approach to delineate metabolic impacts of endocrine disruptors. ﻿

The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteins. ﻿

Severe phenotype in patients with large deletions of NF1 ﻿

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome. ﻿

A Mechanism Underpinning the Bioenergetic Metabolism-Regulating Function of Gold Nanocatalysts. ﻿

Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease. ﻿

Etude génétique et fonctionnelle de l’ataxie spastique autosomique récessive de Charlevoix-Saguenay (ARSACS)

Gestion de la coagulopathie et de la transfusion au cours de la transplantation hépatique : Facteurs de risque de saignement, place du monitorage délocalisé de l’hémostase, étude de la génération de thrombine et de l’hyperfibrinolyse

Identification des contaminants environnementaux agissant comme obésogènes en utilisant les larves de poisson zèbre comme modèle

Prise en charge de l’hyperclarté nucale isolée : enquête auprès des Centres pluridisciplinaires de diagnostic prénatal

Recommendations of the Francophone Network of Pharmacogenetics (RNPGx)

Régulation du métabolisme énergétique : étude du remodelage bioénergétique du cancer

The phenotypic spectrum of CEP250 gene variants

Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

Lack of vaccination in ventilated patients for SARS-CoV-2 in France.

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.

Meeting report of the 4th biennial Metabolism and Cancer symposium.

Combinatorial pathway disruption is a powerful approach to delineate metabolic impacts of endocrine disruptors.

The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteins.

Severe phenotype in patients with large deletions of NF1

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

A Mechanism Underpinning the Bioenergetic Metabolism-Regulating Function of Gold Nanocatalysts.

Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.