Fatma Al Jasmi

Al Ain, AZ, United Arab Emirates

Last Updated: 09/26/2026

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Found 12 publications

Evaluating knowledge enhancement and attitudinal shift among physicians participating in capacity building workshops on expanded premarital screening in the United Arab Emirates: a cross-sectional study.

Evaluating knowledge enhancement and attitudinal shift among physicians participating in capacity building workshops on expanded premarital screening in the United Arab Emirates: a cross-sectional study.

Journal: Human genomics

Published: June 03, 2025

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Journal: Frontiers in molecular biosciences

Published: June 21, 2024

An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records.

An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records.

Journal: Scientific reports

Published: April 13, 2024

Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.

Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.

Journal: Orphanet journal of rare diseases

Published: November 24, 2023

Interaction of Glutathione with MMACHC Arginine-Rich Pocket Variants Associated with Cobalamin C Disease: Insights from Molecular Modeling.

Interaction of Glutathione with MMACHC Arginine-Rich Pocket Variants Associated with Cobalamin C Disease: Insights from Molecular Modeling.

Journal: Biomedicines

Published: September 22, 2023

Artificial intelligence and database for NGS-based diagnosis in rare disease.

Artificial intelligence and database for NGS-based diagnosis in rare disease.

Journal: Frontiers in genetics

Published: August 03, 2023

A review of SARS-CoV-2 drug repurposing: databases and machine learning models.

A review of SARS-CoV-2 drug repurposing: databases and machine learning models.

Journal: Frontiers in pharmacology

Published: March 21, 2023

Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report.

Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report.

Journal: Frontiers in genetics

Published: September 26, 2022

Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.

Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.

Journal: Orphanet journal of rare diseases

Published: June 15, 2022

Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients.

Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients.

Journal: Genes

Published: July 30, 2021

Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases.

Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases.

Journal: Journal of central nervous system disease

Published: September 18, 2019

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.

Journal: Molecular genetics and metabolism

Published: February 06, 2018

Showing 1-12 of 12

Last Updated: 09/26/2026