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

Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.

Functional Characterization of Splice Variants in the Diagnosis of Albinism.

Functional single-cell analyses of mesenchymal stromal cell proliferation and differentiation using ALDH-activity and mitochondrial ROS content.

Mechanisms of systemic low-grade inflammation in HIV patients on long-term suppressive antiretroviral therapy: The inflammasome hypothesis

Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3-related CD27 expression in CD4 T cells in Fabry disease.

Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene

Genotypic spectrum of albinism in Mali

New approach methods to assess developmental and adult neurotoxicity for regulatory use: a PARC work package 5 project.

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians.

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism.

A multilayered approach to the analysis of genetic data from individuals with suspected albinism.

ARF1-related disorder: phenotypic and molecular spectrum

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.

Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

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

Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia. ﻿

Functional Characterization of Splice Variants in the Diagnosis of Albinism. ﻿

Functional single-cell analyses of mesenchymal stromal cell proliferation and differentiation using ALDH-activity and mitochondrial ROS content. ﻿

Mechanisms of systemic low-grade inflammation in HIV patients on long-term suppressive antiretroviral therapy: The inflammasome hypothesis ﻿

Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3-related CD27 expression in CD4 T cells in Fabry disease. ﻿

Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene ﻿

Genotypic spectrum of albinism in Mali ﻿

New approach methods to assess developmental and adult neurotoxicity for regulatory use: a PARC work package 5 project. ﻿

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective. ﻿

Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians. ﻿

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients. ﻿

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. ﻿

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy. ﻿

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles. ﻿

The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism. ﻿

A multilayered approach to the analysis of genetic data from individuals with suspected albinism. ﻿

ARF1-related disorder: phenotypic and molecular spectrum ﻿

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes. ﻿

Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism. ﻿

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. ﻿

Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.

Functional Characterization of Splice Variants in the Diagnosis of Albinism.

Functional single-cell analyses of mesenchymal stromal cell proliferation and differentiation using ALDH-activity and mitochondrial ROS content.

Mechanisms of systemic low-grade inflammation in HIV patients on long-term suppressive antiretroviral therapy: The inflammasome hypothesis

Mass cytometry reveals atypical immune profile notably impaired maturation of memory CD4 T with Gb3-related CD27 expression in CD4 T cells in Fabry disease.

Investigations of an individual with a Marfanoid habitus, mild intellectual disability, and severe social anxiety identifies PCDHGA5 as a candidate neurodevelopmental disorder gene

Genotypic spectrum of albinism in Mali

New approach methods to assess developmental and adult neurotoxicity for regulatory use: a PARC work package 5 project.

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians.

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism.

A multilayered approach to the analysis of genetic data from individuals with suspected albinism.

ARF1-related disorder: phenotypic and molecular spectrum

Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.

Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.