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JIMD Reports|July 8, 2024
A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiencyKhalid Al-Thihli, Nadia Al Hashmi, Aaisha Al Balushi, et al.
Frontiers in Genetics|February 27, 2024
Spectrum of genetic variants in bilateral sensorineural hearing lossAmanat Ali, Mohammed Tabouni, Praseetha Kizhakkedath, et al.
Frontiers in Genetics|February 19, 2024
Artificial intelligence and database for NGS-based diagnosis in rare diseaseYee Wen Choon, Yee Fan Choon, Nurul Athirah Nasarudin, et al.
Human Genomics|November 4, 2025
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 studyAzhar T Rahma, Mushal Allam, Hajra Amoodi, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|September 16, 2018
Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemiasNahid Al Dhahouri, Claus-Dieter Langhans, Zalikha Al Hammadi, et al.
Frontiers in Pediatrics|July 28, 2023
Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysisFeda E Mohamed, Mohammad A Ghattas, Taleb M Almansoori, et al.
Clinical Genetics|January 6, 2022
Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thriveHanadi A Abdelrahman, Nadia Akawi, Aisha M Al-Shamsi, et al.
Orphanet Journal of Rare Diseases|November 4, 2023
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf familiesMarwa Al Busaidi, Feda E Mohamed, Eiman Al-Ajmi, et al.
Hepatology Communications|October 22, 2021
Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1Tassos Grammatikopoulos, Nedim Hadzic, Pierre Foskett, et al.
F1000Research|April 28, 2026
An Improved Deep Learning Algorithm for Breast Cancer Survival Prediction Based on Multi-Omics DataNurul Athirah Nasarudin, Fatma Al-Jasmi, Nor Hidayati Abdul Aziz, et al.
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