Genetics

Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis
Al-Shamsi, B., Al-Kasbi, G., Al-Kindi, A., Bruwer, Z., Al-Kharusi, K. & Al-Maawali, A., Jan 2022, In: European Journal of Medical Genetics. 65, 1, 104376.
Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)
Burden and disease pathogenesis of influenza and other respiratory viruses in diabetic patients
Thomas, S., Ouhtit, A., Al Khatib, H. A., Eid, A. H., Mathew, S., Nasrallah, G. K., Emara, M. M., Al Maslamani, M. A. & Yassine, H. M., Apr 2022, In: Journal of Infection and Public Health. 15, 4, p. 412-424 13 p.
Research output: Contribution to journal › Review article › peer-review

Open Access
Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome
van Esveld, S. L., Rodenburg, R. J., Al-Murshedi, F., Al-Ajmi, E., Al-Zuhaibi, S., Huynen, M. A. & Spelbrink, J. N., Mar 2022, In: Journal of Inherited Metabolic Disease. 45, 2, p. 292-307 16 p.
Research output: Contribution to journal › Article › peer-review

Open Access

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