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Brain & Development|October 11, 2011
A novel mutation in an atypical presentation of the rare infantile Farber diseaseFatma Al Jasmi
Journal of Comparative Effectiveness Research|March 20, 2025
Effectiveness and safety of asfotase alfa for people with hypophosphatasia: a plain language summary of three studiesFatma Al Jasmi, Zhanna Belaya
Frontiers in Pharmacology|February 28, 2024
Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studiesFeda E Mohamed, Fatma Al-Jasmi
BMC Medical Education|October 27, 2010
Hunter disease eClinic: interactive, computer-assisted, problem-based approach to independent learning about a rare genetic diseaseFatma Al-Jasmi, Laura Moldovan, Joe T R Clarke
Orphanet Journal of Rare Diseases|July 4, 2026
Mapping the landscape of treatable inborn errors of metabolism: a systematic gene-level evaluation based on the ICIMD classificationTabeer Fatima, Jalal Khan, Fatma Al-Jasmi, et al.
Molecular Genetics and Metabolism|October 15, 2011
The phosphorescence oxygen analyzer as a screening tool for disorders with impaired lymphocyte bioenergeticsFatma Al-Jasmi, Harvey S Penefsky, Abdul-Kader Souid
Molecular Genetics & Genomic Medicine|November 28, 2017
SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizureNuha Al Zaabi, Noora Al Menhali, Fatma Al-Jasmi
Frontiers in Pediatrics|February 21, 2022
Case Report: Reinterpretation and Reclassification of <i>ARSB</i>:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the <i>CDH23</i> GeneNahid Al Dhahouri, Amanat Ali, Jozef Hertecant, et al.
Biomedicines|December 23, 2023
Interaction of Glutathione with MMACHC Arginine-Rich Pocket Variants Associated with Cobalamin C Disease: Insights from Molecular ModelingPriya Antony, Bincy Baby, Amanat Ali, et al.
European Journal of Pediatrics|November 13, 2014
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variabilityAisha M Al-Shamsi, Salma Ben-Salem, Jozef Hertecant, et al.
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