Khalid Al-Thihli

Dr.

Genetics

Source: Scopus
Calculated based on no. of publications stored in Pure and citations from Scopus

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447 Citations
12 h-Index
29 Article
2 Chapter
1 Abstract

6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects
Almannai, M., Felemban, R., Saleh, M. A., Faqeih, E. A., Alasmari, A., AlHashem, A., Mohamed, S., Sunbul, R., AL-Murshedi, F., Al-Thihli, K., Eyaid, W., Ali, R., Ben-Omran, T., Blau, N., El-Hattab, A. W. & Alfadhel, M., Jan 1 2019, In : Pediatric Neurology.
Research output: Contribution to journal › Article › peer-review

Open Access
2 Citations (Scopus)
Auxiliary partial orthotopic liver transplantation for monogenic metabolic liver diseases: Single-centre experience
Shanmugam, N. P., Valamparampil, J. J., Reddy, M. S., Al Said, K. J., Al-Thihli, K., Al-Hashmi, N., Al-Jishi, E., Isa, H. M. A., Jalan, A. B. & Rela, M., Jan 1 2019, JIMD Reports. Springer, p. 29-36 8 p. (JIMD Reports; vol. 45).
Research output: Chapter in Book/Report/Conference proceeding › Chapter
2 Citations (Scopus)
Normal electro-oculography in a young Omani male with genetically confirmed best disease complicated by choroidal neovascularization
AL-Abri, M., Al-Hinai, A., AL-Zuhaibi, S., Ganesh, A., Al Ghafri, A. & Al-Thihli, K., Jan 1 2019, In : Oman Journal of Ophthalmology. 12, 1, p. 37-41 5 p.
Research output: Contribution to journal › Article › peer-review
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
AL-Futaisi, A. & Al-Thihli, K., Mar 1 2019, In : Brain.
Research output: Contribution to journal › Article › peer-review

Open Access

19 Citations (Scopus)
Congenital Hyperinsulinism and Maple Syrup Urine Disease a Challenging Combination
Al-Shidhani, A., AL-Yaarubi, S., AL-Murshedi, F., Ullah, I. & Al-Thihli, K., 2018, p. 359.
Research output: Contribution to conference › Abstract › peer-review

6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects

Auxiliary partial orthotopic liver transplantation for monogenic metabolic liver diseases: Single-centre experience

Normal electro-oculography in a young Omani male with genetically confirmed best disease complicated by choroidal neovascularization

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Congenital Hyperinsulinism and Maple Syrup Urine Disease a Challenging Combination