Discover open access scientific publications

Search, annotate, share and cite publications

Publications by O. Sthandier

The Lack of the Celf2a Splicing Factor Converts a Duchenne Genotype Into a Becker Phenotype

Nature Communications

Molecular Biology

English

Related publications

Heterozygous Glucokinase Splicing Mutation - Identical Genotype With Variable Phenotype in a Single Family

Endocrine Abstracts

English

Improved Diagnosis of Duchenne/Becker Muscular Dystrophy.

Journal of Clinical Investigation

English

Expanding the Phenotype Half of the Genotype−phenotype Space

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Prevalence of Duchenne and Becker Muscular Dystrophies in the United States

English

Expanding the Phenotype of DST‐related Disorder: A Case Report Suggesting a Genotype/Phenotype Correlation

American Journal of Medical Genetics, Part A

English

Genotype-Phenotype Relationships in a Cohort

European Respiratory Journal

Respiratory Medicine

English

Motor Clinical Progression in a Series of Pediatric Duchenne and Becker Muscular Dystrophy Cases

Paediatrica Indonesiana

English

The Enumeration of Genotype-Phenotype Correspondences

English

213 Initial Explorations Into Genotype-Phenotype Correlations in Psoriasis: The Homozygous Recessive Model

Journal of Investigative Dermatology

Molecular Biology

English