Showing results (21-30 of 56) with videos related to

Sort By:
Pageof 6
Orphanet Journal of Rare Diseases|October 28, 2022
Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf RegionZuhair Al-Hassnan, Nadia Al Hashmi, Nawal Makhseed, et al.
Scientific Reports|September 14, 2024
An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health recordsJaloliddin Rustamov, Zahiriddin Rustamov, Mohd Saberi Mohamad, et al.
Briefings in Bioinformatics|December 27, 2023
A review of genetic variant databases and machine learning tools for predicting the pathogenicity of breast cancerRahaf M Ahmad, Bassam R Ali, Fatma Al-Jasmi, et al.
Journal of Central Nervous System Disease|March 14, 2020
Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial DiseasesFatma Al Jasmi, Nuha Al Zaabi, Khalid Al-Thihli, et al.
Frontiers in Pharmacology|August 21, 2023
A review of SARS-CoV-2 drug repurposing: databases and machine learning modelsMarim Elkashlan, Rahaf M Ahmad, Malak Hajar, et al.
The Journal of Pediatrics|July 26, 2011
Cardiac disease in methylmalonic acidemiaCarlos E Prada, Fatma Al Jasmi, Edwin P Kirk, et al.
Human Genomics|September 10, 2024
AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genesRahaf M Ahmad, Bassam R Ali, Fatma Al-Jasmi, et al.
JIMD Reports|February 10, 2025
Retrospective Study of Clinical and Genetic Profiles of Alpha-Mannosidosis Patients From the UAEAli K Saad, Tasneem Al-Hammadi, Shaikha Al-Ameri, et al.
Frontiers in Genetics|August 14, 2023
Case report: Birk-Landau-Perez syndrome linked to the gene-identification of additional cases and expansion of the phenotypic spectrumPraseetha Kizhakkedath, Watfa AlDhaheri, Ibrahim Baydoun, et al.
Human Genetics|March 29, 2020
The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosisFedah E Mohamed, Mohammad Al Sorkhy, Mohammad A Ghattas, et al.
Pageof 6