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
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Functional Characterization of Clinically Relevant Genetic Variants
Al-Maawali, A. (PI)
Project: Other project
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Identifying Genetic causes of Autosomal Recessive Intellectual Disability
Al-Maawali, A. (PI)
Project: Other project
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Functional characterization of RYR3 mutations associated with neurodevelopment disorders.
Al-Maawali, A. (PI)
Project: Other project
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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)
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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 Access -
Genotype‒phenotype correlation in recessive DNAJB4 myopathy
Inoue, M., Jayaraman, D., Bengoechea, R., Bhadra, A., Genetti, C. A., Aldeeri, A. A., Turan, B., Pacheco-Orozco, R. A., Al-Maawali, A., Al Hashmi, N., Zamani, A. G., Göktaş, E., Pekcan, S., Çağlar, H. T., True, H., Beggs, A. H. & Weihl, C. C., Dec 2024, In: Acta neuropathologica communications. 12, 1, 171.Research output: Contribution to journal › Article › peer-review
Open Access -
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 Access1 Citation (Scopus) -
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 -
Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature
Al-Amrani, F., Al-Maawali, A., Al-Thihli, K., Al-Ajmi, E., Ganesh, A. & Al futaisi, A., Nov 1 2023, In: Pediatric Neurology. 148, p. 73-80 8 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Citations (Scopus)