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Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211: Dépôts récents

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

Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo.

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

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

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.

Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study.

Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.

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

Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study

Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia

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

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.

Albinism: An Underdiagnosed Condition.

Clinical variability and probable founder effect in oculocutaneous albinism type 7.

Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.

The Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.

Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome

Late-onset presentation of neurometabolic diseases: Diagnostic flowchart revisited

Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211: Dépôts récents

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

Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo. ﻿

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients. ﻿

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

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder. ﻿

Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study. ﻿

Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation. ﻿

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

Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study ﻿

Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia ﻿

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

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies. ﻿

Albinism: An Underdiagnosed Condition. ﻿

Clinical variability and probable founder effect in oculocutaneous albinism type 7. ﻿

Hemidystonia with polymicrogyria is part of ATP1A3-related disorders. ﻿

The Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism. ﻿

Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome ﻿

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies ﻿

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome ﻿

Late-onset presentation of neurometabolic diseases: Diagnostic flowchart revisited ﻿

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

Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo.

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

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

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.

Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study.

Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.

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

Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study

Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia

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

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.

Albinism: An Underdiagnosed Condition.

Clinical variability and probable founder effect in oculocutaneous albinism type 7.

Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.

The Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.

Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome

Late-onset presentation of neurometabolic diseases: Diagnostic flowchart revisited