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
1/1/24 → 12/31/25
Project: Internal Grants (IG)
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Functional characterization of RYR3 mutations associated with neurodevelopment disorders.
1/1/19 → 12/31/20
Project: Internal Grants (IG)
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Identifying Genetic causes of Autosomal Recessive Intellectual Disability
1/1/16 → 12/31/20
Project: Consultancy project
Research output
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LRP4 site-specific variants in the third β-propeller domain causes congenital myasthenic syndrome type 17
Al Jabry, T., Al-Hashmi, N., Abdelhadi, B. & Al-Maawali, A., Feb 1 2024, In: European Journal of Medical Genetics. 67, 104903.Research output: Contribution to journal › Review article › peer-review
Open Access -
A homozygous loss-of-function C1S mutation is associated with Kikuchi-Fujimoto disease
Alshekaili, J., Nasr, I., Al-Rawahi, M., Ansari, Z., Al Rahbi, N., Al Balushi, H., Al-Zadjali, S., Al Kindi, M., Al-Maawali, A. & Cook, M. C., Jul 1 2023, In: Clinical Immunology. 252, p. 109646 109646.Research output: Contribution to journal › Article › peer-review
Open Access -
Author Correction: PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing: PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing (Nature Metabolism, (2023), 5, 3, (495-515), 10.1038/s42255-023-00766-2)
Cikes, D., Elsayad, K., Sezgin, E., Koitai, E., Torma, F., Orthofer, M., Yarwood, R., Heinz, L. X., Sedlyarov, V., Miranda, N. D., Taylor, A., Grapentine, S., al-Murshedi, F., Abot, A., Weidinger, A., Kutchukian, C., Sanchez, C., Cronin, S. J. F., Novatchkova, M., Kavirayani, A., & 18 others , Apr 6 2023, In: Nature Metabolism. 5, 4, p. 711 1 p.Research output: Contribution to journal › Article › peer-review
Open Access
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)
Khalid Al-Thihli, Amna ALfutaisi, Fathiya AL-Murshedi & Watfa AL-Moamari
11/21/23
1 item of Media coverage
Press/Media: Press / Media
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New Life Science Study Findings Recently Were Reported by Researchers at Sultan Qaboos University (Autosomal Recessive Notch3-related Leukodystrophy In Two Siblings and Review of the Literature)
Anuradha Ganesh, Khalid Al-Thihli & Amna ALfutaisi
11/2/23
1 item of Media coverage
Press/Media: Press / Media