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

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.

Abnormal Cellular Phenotypes Induced by Three /LAP2 Variants Identified in Men with Cardiomyopathies.

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).

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

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.

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

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. ﻿

Abnormal Cellular Phenotypes Induced by Three /LAP2 Variants Identified in Men with Cardiomyopathies. ﻿

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome). ﻿

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

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool. ﻿

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.

Abnormal Cellular Phenotypes Induced by Three /LAP2 Variants Identified in Men with Cardiomyopathies.

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).

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

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.