Genetics

Fingerprint Dive into the research topics where Genetics is active. These topic labels come from the works of this organisation's members. Together they form a unique fingerprint.

    • Network Recent external collaboration on country level. Dive into details by clicking on the dots.

    Research Output

    Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

    Baertling, F., Al-Murshedi, F., Sánchez-Caballero, L., Al-Senaidi, K., Joshi, N. P., Venselaar, H., van den Brand, M. A., Nijtmans, L. G. & Rodenburg, R. J., 2017, (Accepted/In press) In : Human Mutation.

    Research output: Contribution to journal › Article

    • 5 Citations (Scopus)

    Guidelines for acute management of hyperammonemia in the Middle East region

    Alfadhel, M., Al Mutairi, F., Makhseed, N., Al Jasmi, F., Al-Thihli, K., Al-Jishi, E., AlSayed, M., Al-Hassnan, Z. N., Al-Murshedi, F., Häberle, J., Ben-Omran, T. & Middle East Hyperammonemia and Urea Cycle Disorders Scientific Group (MHUSG), Mar 31 2016, In : Therapeutics and Clinical Risk Management. 12, p. 479-487 9 p.

    Research output: Contribution to journal › Article

    • 14 Citations (Scopus)

    Occurrence of optic neuritis and cervical cord Schwannoma with Charcot-Marie-tooth type 4B1 disease

    Scott, P., Bruwer, Z., Al-Kharusi, K., Meftah, D. & Al-Murshedi, F., May 1 2016, In : Oman Medical Journal. 31, 3, p. 227-230 4 p.

    Research output: Contribution to journal › Article

    • 4 Citations (Scopus)