Hiba Alblooshi
Al Ain, AZ, United Arab Emirates
Last Updated: 09/26/2026
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Found 21 publications
Mapping the landscape of treatable inborn errors of metabolism: a systematic gene-level evaluation based on the ICIMD classification.
Journal: Orphanet journal of rare diseases
Published: April 08, 2026
Correction: A novel LACC1 variant c.658G > A (p.Asp220Asn) in familial juvenile arthritis: identification and functional analysis.
Journal: Human genomics
Published: December 19, 2025
Emerging trends and research hot spots in inborn error of immunity: A bibliometric perspective.
Journal: The journal of allergy and clinical immunology. Global
Published: November 03, 2025
Clinical Features of Families with a Novel Pathogenic Mutation in Sepiapterin Reductase.
Journal: International journal of molecular sciences
Published: March 13, 2025
Identification and functional characterisation of a novel DNASE1L3 variant (c.572A>G, p.Asn191Ser) in three Emirati families with systemic lupus erythematosus and hypocomplementaemic urticarial vasculitis.
Journal: Lupus science & medicine
Published: December 13, 2024
The impact of familial autoimmunity and familial lupus on the clinical presentations and disease outcomes of SLE patients in the United Arab Emirates.
Journal: BMC rheumatology
Published: November 09, 2024
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
The diversity and clinical implications of genetic variants influencing clopidogrel bioactivation and response in the Emirati population.
Journal: Human genomics
Published: October 31, 2023
Spectrum of genetic variants in bilateral sensorineural hearing loss.
Journal: Frontiers in genetics
Published: October 10, 2023
Last Updated: 09/26/2026