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
Projects
- 1 Finished
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A new paradigm for the molecular diagnosis of uncharacterized genetic disorders in the Omani population
9/1/14 → 5/31/18
Project: MoHERI
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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 Access -
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
Accogli, A., Lin, S. J., Severino, M., Kim, S. H., Huang, K., Rocca, C., Landsverk, M., Zaki, M. S., Al-Maawali, A., Srinivasan, V. M., Al-Thihli, K., Schaefer, G. B., Davis, M., Tonduti, D., Doneda, C., Marten, L. M., Mühlhausen, C., Gomez, M., Lamantea, E., Mena, R., & 39 others , Nov 1 2023, In: Genetics in Medicine. 25, 11, p. 100938 100938.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus) -
Domino liver transplantation for maple syrup urine disease in children: A single-center case series
Kumar, V., Gautam, V., Agarwal, S., Pandey, V., Goyal, S., Nasa, V., Singh, S. A., Al-Thihli, K., Al-Murshedi, F., Al Hashmi, N., Al Rawahi, Y., Al-Bahlani, A. Q., Al Said, K. & Gupta, S., Dec 2023, In: Pediatric Transplantation. 27, 8, p. e14603 e14603.Research output: Contribution to journal › Article › peer-review
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Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families: novel PCK1 variants in four Arabian Gulf families
Al Busaidi, M., Mohamed, F. E., Al-Ajmi, E., Al Hashmi, N., Al-Thihli, K., Al Futaisi, A., Al Mamari, W., Al-Murshedi, F. & Al-Jasmi, F., Nov 3 2023, In: Orphanet Journal of Rare Diseases. 18, 1, p. 344 344.Research output: Contribution to journal › Article › peer-review
Open Access -
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain
Averdunk, L., Al-Thihli, K., Surowy, H., Lüdecke, H. J., Drechsler, M., Yigit, G., Smorag, L., Al Hallak, B., Li, Y., Altmüller, J., Guthoff, T., Wallot, M., Nürnberg, P., Wollnik, B., Jamra, R. A., Al-Maawali, A. & Wieczorek, D., Jan 2 2023, In: Clinical Genetics. 103, 4, p. 484-491 8 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Citation (Scopus)
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 & 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
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Study Results from Sultan Qaboos University Hospital Update Understanding of Maple Syrup Urine Disease (Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination)
Khalid Al-Thihli, Fathiya AL-Murshedi & Azza Al-Shidhani
9/11/23
1 item of Media coverage
Press/Media: Press / Media