Fatma A. Jasmi-Al
Al Ain, AZ, United Arab Emirates
Last Updated: 09/26/2026
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Found 37 publications
Mapping the landscape of treatable inborn errors of metabolism: a systematic gene-level evaluation based on the ICIMD classification.
Journal: Orphanet journal of rare diseases
Published: April 08, 2026
Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease.
Journal: Genetics in medicine open
Published: September 16, 2025
Explainable AI-driven graph-based neural networks for mucopolysaccharidoses diagnosis.
Journal: BioData mining
Published: July 21, 2025
Clinical Features of Families with a Novel Pathogenic Mutation in Sepiapterin Reductase.
Journal: International journal of molecular sciences
Published: March 13, 2025
Feasibility and efficacy of the forced oscillation technique in patients with lysosomal storage diseases.
Journal: Scientific reports
Published: October 30, 2024
AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes.
Journal: Human genomics
Published: March 18, 2024
A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency.
Journal: JIMD reports
Published: January 21, 2024
Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies.
Journal: Frontiers in pharmacology
Published: November 08, 2023
Spectrum of genetic variants in bilateral sensorineural hearing loss.
Journal: Frontiers in genetics
Published: October 10, 2023
A review of genetic variant databases and machine learning tools for predicting the pathogenicity of breast cancer.
Journal: Briefings in bioinformatics
Published: June 22, 2023
Last Updated: 09/26/2026