Projects per year
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Profiles
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Functional Characterization of biallelic mutations of Centrobin as causative of Seckel-like syndrome
Ya Mohammed Hilal Al-Azri, F. (PI)
1/1/24 → 12/31/25
Project: Internal Grants (IG)
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Characterization of Hitherto Undiagnosed Adult Neurogenetic Disorders in Oman
Al-Maawali, A. (PI)
9/1/19 → 8/31/21
Project: MoHERI
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Functional characterization of RYR3 mutations associated with neurodevelopment disorders.
Al-Maawali, A. (PI)
1/1/19 → 12/31/20
Project: Internal Grants (IG)
Research output
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Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder
Rawlins, L. E., Maroofian, R., Cannon, S. J., Daana, M., Zamani, M., Ghani, S., Leslie, J. S., Ubeyratna, N., Khan, N., Khan, H., Scardamaglia, A., Cloarec, R., Khan, S. A., Umair, M., Sadeghian, S., Galehdari, H., Al-Maawali, A., Al-Kindi, A., Azizimalamiri, R. & Shariati, G. & 41 others, , Feb 2025, In: Genetics in Medicine. 27, 2, 101278.Research output: Contribution to journal › Article › peer-review
Open Access -
Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency
Al-Amrani, F., Ruiter, J. P. N., Doolaard, M., Kumar, A., Ferdinandusse, S. & Al-Thihli, K., Feb 2025, In: American Journal of Medical Genetics, Part A. 197, 2, e63900.Research output: Contribution to journal › Article › peer-review
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A biallelic variant of the RNA exosome gene, EXOSC4, associated with neurodevelopmental defects impairs RNA exosome function and translation
Fasken, M. B., Leung, S. W., Cureton, L. A., Al-Awadi, M., Al-Kindy, A., van Hoof, A., Khoshnevis, S., Ghalei, H., Al-Maawali, A. & Corbett, A. H., Aug 2024, In: Journal of Biological Chemistry. 300, 8, 107571.Research output: Contribution to journal › Article › peer-review
Open Access2 Citations (Scopus)
Press/Media
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New Disease Progression Findings from Sultan Qaboos University Described (Transient response to high-dose niacin therapy in a patient with NAXE deficiency)
Al-Thihli, K., ALfutaisi, A. & AL-Murshedi, F.
7/23/24
1 item of Media coverage
Press/Media: Press / Media
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Researchers from University of Birmingham Describe Findings in Life Science (Inactivation Of Drg1, Encoding a Translation Factor Gtpase, Causes a Recessive Neurodevelopmental Disorder)
1/5/24
1 item of Media coverage
Press/Media: Press / Media
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Reports on Hypoglycemia Findings from Sultan Qaboos University Provide New Insights (Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families)
Al-Thihli, K., ALfutaisi, A., AL-Moamari, W. & AL-Murshedi, F.
11/21/23
1 item of Media coverage
Press/Media: Press / Media