Research output per year
Research output per year
Research output
Search results
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2020
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) -
2019
Combined Immunodeficiency, Hemolytic Anemia, and Growth Retardation Secondary to a Homozygous Mutation in the NHEJ1 Gene
Al-Marhoobi, R., Al-Musalhi, M., Naseem, S. U. R., Wali, Y., Alsayegh, A. & Al-Tamemi, S., Jan 1 2019, (Accepted/In press) In: Journal of Pediatric Hematology/Oncology.Research output: Contribution to journal › Letter › peer-review
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2016
Accredited genetic testing in the Arab Gulf region: Reinventing the wheel
Zayed, H. & Ouhtit, A., Jul 1 2016, In: Journal of Human Genetics. 61, 7, p. 673-674 2 p.Research output: Contribution to journal › Letter › peer-review
6 Citations (Scopus)