Récemment ajouté

Voici les éléments 41-60 de 150

Les cookies utilisés sur ce site ne servent pas à identifier l’utilisateur mais à collecter des informations relatives à la navigation. En savoir plus…

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

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

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

Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center

Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.

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

The deubiquitinase OTUB1 governs lung cancer cell fitness by modulating proteostasis of OXPHOS proteins.

L-asparaginase anti-tumor activity in pancreatic cancer is dependent on its glutaminase activity and resistance is mediated by glutamine synthetase

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness.

First clinical description of a pedigree with complete NAF1 deletion

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

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

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.

Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients.

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.

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

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

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

Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center ﻿

Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA). ﻿

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing. ﻿

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations. ﻿

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility. ﻿

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders. ﻿

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions. ﻿

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

The deubiquitinase OTUB1 governs lung cancer cell fitness by modulating proteostasis of OXPHOS proteins. ﻿

L-asparaginase anti-tumor activity in pancreatic cancer is dependent on its glutaminase activity and resistance is mediated by glutamine synthetase ﻿

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum ﻿

Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness. ﻿

First clinical description of a pedigree with complete NAF1 deletion ﻿

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. ﻿

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

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease. ﻿

Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients. ﻿

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences. ﻿

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

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

Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center

Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).

The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.

Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.

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

The deubiquitinase OTUB1 governs lung cancer cell fitness by modulating proteostasis of OXPHOS proteins.

L-asparaginase anti-tumor activity in pancreatic cancer is dependent on its glutaminase activity and resistance is mediated by glutamine synthetase

OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness.

First clinical description of a pedigree with complete NAF1 deletion

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

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

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.

Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients.

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.