Khalid Al-Thihli

View Scopus Profile

Emailalthihlisqu.eduom

h-index
h10-index
h5-index

Research activity per year

If you made any changes in Pure these will be visible here soon.

52 Article
2 Chapter
2 Letter
2 Review article
More
- 1 Abstract
- 1 Comment/debate

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 othersNizon, M., Procaccio, V., Begtrup, A., Telegrafi, A., Cui, H., Schulz, H. L., Mohr, J., Biskup, S., Loos, M. A., Aráoz, H. V., Salpietro, V., Keppen, L. D., Chitre, M., Petree, C., Raymond, L., Vogt, J., Sawyer, L. B., Basinger, A. A., Pedersen, S. V., Pearson, T. S., Grange, D. K., Lingappa, L., McDunnah, P., Horvath, R., Cognè, B., Isidor, B., Hahn, A., Gripp, K. W., Jafarnejad, S. M., Østergaard, E., Prada, C. E., Ghezzi, D., Gowda, V. K., Taylor, R. W., Sonenberg, N., Houlden, H., Sissler, M., Varshney, G. K. & Maroofian, R., Nov 1 2023, In: Genetics in Medicine. 25, 11, p. 100938 100938.
Research output: Contribution to journal › Article › peer-review

Open Access
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., Sept 1 2023, In: Pediatric Transplantation. 27, 8, p. e14603
Research output: Contribution to journal › Article › peer-review
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: 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 Access

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
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

Al-Thihli Khalid

Collaborations and top research areas from the last five years

Dive into details

Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

Domino liver transplantation for maple syrup urine disease in children: A single-center case series

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain

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)

Study Results from Sultan Qaboos University Hospital Update Understanding of Maple Syrup Urine Disease (Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination)

Al-Thihli Khalid

Collaborations and top research areas from the last five years

Research output

Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

Domino liver transplantation for maple syrup urine disease in children: A single-center case series

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain

Press/Media

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)

Study Results from Sultan Qaboos University Hospital Update Understanding of Maple Syrup Urine Disease (Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination)