Juliette Nectoux

Paris, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 62 publications

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing.

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing.

Journal: Journal of neuromuscular diseases

Published: July 09, 2026

Autosomal Dominant Missense DAG1 Variant Linked to Mild-Moderate LGMD R16.

Autosomal Dominant Missense DAG1 Variant Linked to Mild-Moderate LGMD R16.

Journal: Human mutation

Published: May 04, 2026

Nationwide implementation of exclusion non-invasive prenatal diagnosis for single-gene disorders: Nine-year activity and performance analysis from the French public network.

Nationwide implementation of exclusion non-invasive prenatal diagnosis for single-gene disorders: Nine-year activity and performance analysis from the French public network.

Journal: Annales d'endocrinologie

Published: March 21, 2026

Genetic counseling, prenatal diagnosis and newborn screening in Duchenne muscular dystrophy.

Genetic counseling, prenatal diagnosis and newborn screening in Duchenne muscular dystrophy.

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Published: December 14, 2025

Dysferlinopathy due to a homozygous DYSF DysF-domain variant in a non-consanguineous Tunisian family.

Dysferlinopathy due to a homozygous DYSF DysF-domain variant in a non-consanguineous Tunisian family.

Journal: Molecular biology reports

Published: November 13, 2025

Molecular Prenatal Diagnosis of Monogenic Diseases, Towards Non-invasive Procedures.

Molecular Prenatal Diagnosis of Monogenic Diseases, Towards Non-invasive Procedures.

Journal: Archives of medical research

Published: November 13, 2025

Fragmentomics features of cell free DNA in eating disorders.

Fragmentomics features of cell free DNA in eating disorders.

Journal: Translational psychiatry

Published: September 25, 2025

A novel XPNPEP3 gene variant manifesting as rhabdomyolysis and exercise intolerance.

A novel XPNPEP3 gene variant manifesting as rhabdomyolysis and exercise intolerance.

Journal: Journal of neuromuscular diseases

Published: September 15, 2025

Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.

Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.

Journal: Muscle & nerve

Published: September 08, 2025

Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexity.

Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexity.

Journal: Brain : a journal of neurology

Published: August 12, 2025

Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry.

Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry.

Journal: Orphanet journal of rare diseases

Published: April 09, 2025

The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia.

The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia.

Journal: Prenatal diagnosis

Published: April 02, 2025

Showing 1-12 of 62

Last Updated: 09/26/2026