Research output per year
Research output per year
Network
Recent external collaboration on country level. Dive into details by clicking on the dots or
Research output
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Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23
AL-Futaisi, A., Ahmad, F., Al-Kasbi, G., Al-Thihli, K., Koul, R. & Al-Maawali, A., Apr 1 2020, In: Clinical Genetics. 97, 4, p. 666-667 2 p.Research output: Contribution to journal › Letter › peer-review
2 Citations (Scopus) -
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 Access3 Citations (Scopus) -
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism
Al-Dirbashi, O. Y., Alfadhel, M., Al-Thihli, K., Al Dhahouri, N., Langhans, C. D., Al Hammadi, Z., Al-Shamsi, A., Hertecant, J., Okun, J. G., Hoffmann, G. F. & Al-Jasmi, F., Dec 1 2019, In: Scientific Reports. 9, 1, 12366.Research output: Contribution to journal › Article › peer-review
Open Access4 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
4 Citations (Scopus) -
Nonketotic Hyperglycinemia: Two Case Reports and Review
Poothrikovil, R. P., Al Thihli, K., Al Futaisi, A. & Al Murshidi, F., Jul 3 2019, In: Neurodiagnostic Journal. 59, 3, p. 142-151 10 p.Research output: Contribution to journal › Article › peer-review
3 Citations (Scopus)