Sarah Snanoudj
Rouen, France
Last Updated: 09/26/2026
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Found 15 publications
Rare features in Feingold syndrome type 1.
Journal: European journal of medical genetics
Published: November 19, 2024
Interpretation of results from high-throughput sequencing for genetic diseases: implementation of national homogenization in France
Journal: Medecine sciences : M/S
Published: October 25, 2024
Genome-wide expression analysis in a Fabry disease human podocyte cell line.
Journal: Heliyon
Published: March 14, 2024
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency.
Journal: International journal of molecular sciences
Published: November 28, 2022
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.
Journal: International journal of molecular sciences
Published: October 16, 2021
Large-scale screening of lipase acid deficiency in at risk population.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: February 26, 2021
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.
Journal: Life (Basel, Switzerland)
Published: February 14, 2021
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.
Journal: Diagnostics (Basel, Switzerland)
Published: January 26, 2021
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Journal: Journal of medical genetics
Published: October 13, 2020
Last Updated: 09/26/2026