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Frontiers in Pharmacology|July 25, 2017
Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future PromisesFedah E Mohamed, Lihadh Al-Gazali, Fatma Al-Jasmi, et al.Frontiers in Genetics|December 30, 2022
Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case reportAreej Albawa'neh, Mariam Ghareeb Al Mansoori, Sehriban Diab, et al.Journal of Pediatric Hematology/Oncology|September 19, 2008
Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosisFatma Al-Jasmi, Mohamed Abdelhaleem, Tracy Stockley, et al.Journal of Molecular Neuroscience : MN|March 22, 2022
A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP GeneFeda E Mohamed, Amanat Ali, Amal Al-Tenaiji, et al.Sultan Qaboos University Medical Journal|February 12, 2014
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab EmiratesAisha Al-Shamsi, Jozef L Hertecant, Sania Al-Hamad, et al.Sultan Qaboos University Medical Journal|August 29, 2013
Mitochondrial Oxygen Consumption by the Foreskin and its Fibroblast-rich CultureFatma Al-Jasmi, Thachillath Pramathan, Adnan Swid, et al.Genes|June 2, 2021
Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine DeficiencyAmanat Ali, Nahid Al Dhahouri, Fatmah Saeed Ali Almesmari, et al.Brain & Development|August 7, 2018
Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survivalNuha Al Zaabi, Anoud Kendi, Fatma Al-Jasmi, et al.Orphanet Journal of Rare Diseases|June 19, 2013
LINS, a modulator of the WNT signaling pathway, is involved in human cognitionNadia A Akawi, Fatma Al-Jasmi, Aisha M Al-Shamsi, et al.Scientific Reports|August 6, 2025
Comparison of machine learning models for mucopolysaccharidosis early diagnosis using UAE medical recordsAamna AlShehhi, Hiba Alblooshi, Ruba Fadul, et al.Pageof 6