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Brain & Development
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October 11, 2011
A novel mutation in an atypical presentation of the rare infantile Farber disease
Fatma 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 studies
Fatma Al Jasmi, Zhanna Belaya
Frontiers in Pharmacology
|
February 28, 2024
Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies
Feda 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 disease
Fatma Al-Jasmi, Laura Moldovan, Joe T R Clarke
Molecular Genetics and Metabolism
|
October 15, 2011
The phosphorescence oxygen analyzer as a screening tool for disorders with impaired lymphocyte bioenergetics
Fatma 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 seizure
Nuha 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> Gene
Nahid Al Dhahouri, Amanat Ali, Jozef Hertecant, et al.
Biodata Mining
|
January 28, 2026
Explainable AI-driven graph-based neural networks for mucopolysaccharidoses diagnosis
Ruba Fadul, Natnael Tumzghi, Mohamed Seghier, et al.
Biomedicines
|
December 23, 2023
Interaction of Glutathione with MMACHC Arginine-Rich Pocket Variants Associated with Cobalamin C Disease: Insights from Molecular Modeling
Priya 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 variability
Aisha M Al-Shamsi, Salma Ben-Salem, Jozef Hertecant, et al.
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of 6
Search research articles
Search
Showing results (1-10 of 58) with videos related to
Sort By:
Page
of 6
Brain & Development
|
October 11, 2011
A novel mutation in an atypical presentation of the rare infantile Farber disease
Fatma 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 studies
Fatma Al Jasmi, Zhanna Belaya
Frontiers in Pharmacology
|
February 28, 2024
Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies
Feda 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 disease
Fatma Al-Jasmi, Laura Moldovan, Joe T R Clarke
Molecular Genetics and Metabolism
|
October 15, 2011
The phosphorescence oxygen analyzer as a screening tool for disorders with impaired lymphocyte bioenergetics
Fatma 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 seizure
Nuha 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> Gene
Nahid Al Dhahouri, Amanat Ali, Jozef Hertecant, et al.
Biodata Mining
|
January 28, 2026
Explainable AI-driven graph-based neural networks for mucopolysaccharidoses diagnosis
Ruba Fadul, Natnael Tumzghi, Mohamed Seghier, et al.
Biomedicines
|
December 23, 2023
Interaction of Glutathione with MMACHC Arginine-Rich Pocket Variants Associated with Cobalamin C Disease: Insights from Molecular Modeling
Priya 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 variability
Aisha M Al-Shamsi, Salma Ben-Salem, Jozef Hertecant, et al.
Page
of 6