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

Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Macrophages recycle phagocytosed bacteria to fuel immunometabolic responses.

Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign.

Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum.

Dépistage génétique néonatal: à propos du programme pilote sur l'amyotrophie spinale (DEPISMA)

A cognitive and sensory approach based on workshops using the zebrafish model promotes the discovery of life sciences in the classroom

Expert Revision of Key Elements for Clinical-Grade Production and Qualification of Perinatal Derivatives

Histologie et réseaux sociaux

Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.

Mitochondrial degradation and energy metabolism.

TRIM4; a novel mitochondrial interacting RING E3 ligase, sensitizes the cells to hydrogen peroxide (H2O2) induced cell death.

Classification of PTEN germline non-truncating variants: a new approach to interpretation

Splice site variants in the canonical donor site of exon 7 lead to intron retention in patients with syndrome.

Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.

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

Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review ﻿

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes ﻿

Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome ﻿

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia ﻿

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses. ﻿

Macrophages recycle phagocytosed bacteria to fuel immunometabolic responses. ﻿

Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign. ﻿

Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum. ﻿

Dépistage génétique néonatal: à propos du programme pilote sur l'amyotrophie spinale (DEPISMA) ﻿

A cognitive and sensory approach based on workshops using the zebrafish model promotes the discovery of life sciences in the classroom ﻿

Expert Revision of Key Elements for Clinical-Grade Production and Qualification of Perinatal Derivatives ﻿

Histologie et réseaux sociaux ﻿

Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients. ﻿

Mitochondrial degradation and energy metabolism. ﻿

TRIM4; a novel mitochondrial interacting RING E3 ligase, sensitizes the cells to hydrogen peroxide (H2O2) induced cell death. ﻿

Classification of PTEN germline non-truncating variants: a new approach to interpretation ﻿

Splice site variants in the canonical donor site of exon 7 lead to intron retention in patients with syndrome. ﻿

Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies. ﻿

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication. ﻿

New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene. ﻿

Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Macrophages recycle phagocytosed bacteria to fuel immunometabolic responses.

Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign.

Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum.

Dépistage génétique néonatal: à propos du programme pilote sur l'amyotrophie spinale (DEPISMA)

A cognitive and sensory approach based on workshops using the zebrafish model promotes the discovery of life sciences in the classroom

Expert Revision of Key Elements for Clinical-Grade Production and Qualification of Perinatal Derivatives

Histologie et réseaux sociaux

Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.

Mitochondrial degradation and energy metabolism.

TRIM4; a novel mitochondrial interacting RING E3 ligase, sensitizes the cells to hydrogen peroxide (H2O2) induced cell death.

Classification of PTEN germline non-truncating variants: a new approach to interpretation

Splice site variants in the canonical donor site of exon 7 lead to intron retention in patients with syndrome.

Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies.

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.