Research output per year
Research output per year
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Applying whole exome sequencing in a consanguineous population with autism spectrum disorder
Al-Mamari, W., Idris, A. B., Al-Thihli, K., Abdulrahim, R., Jalees, S., Al-Jabri, M., Gabr, A., Al Murshedi, F., Al Kindy, A., Al-Hadabi, I., Bruwer, Z., Islam, M. M. & Alsayegh, A., 2021, (Accepted/In press) In: International Journal of Developmental Disabilities.Research output: Contribution to journal › Article › peer-review
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Clinical and molecular characteristics of imerslund-gräsbeck syndrome: First report of a novel Frameshift variant in Exon 11 of AMN gene
Elshinawy, M., Gao, H. H., Al-Nabhani, D. M. & Al-Thihli, K. A., Oct 2021, In: International Journal of Laboratory Hematology. 43, 5, p. 1009-1015 7 p.Research output: Contribution to journal › Article › peer-review
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Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset
Al-Thihli, K., Afting, C., Al-Hashmi, N., Mohammed, M., Sliwinski, S., Al Shibli, N., Al-Said, K., Al-Kasbi, G., Al-Kharusi, K., Merle, U., Füllekrug, J. & Al-Maawali, A., Mar 2021, In: Clinical Genetics. 99, 3, p. 376-383 8 p.Research output: Contribution to journal › Article › peer-review
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Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency
Al Shamsi, B., Al Murshedi, F., Al Habsi, A. & Al-Thihli, K., 2021, (Accepted/In press) In: European Journal of Human Genetics.Research output: Contribution to journal › Article › peer-review
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Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate
Rafei, M. A., Harikrishna, B., Al Thihli, K., Al-Mujaini, A. S. & Ganesh, A., 2021, In: Ophthalmic Genetics. 42, 6, p. 780-783 4 p.Research output: Contribution to journal › Article › peer-review