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.

Cytochrome-c Oxidase Deficiency Medicine & Life Sciences
Mutation Medicine & Life Sciences
Siblings Medicine & Life Sciences
Genetic Databases Medicine & Life Sciences
Young Adult Medicine & Life Sciences
Oman Medicine & Life Sciences
Stroke Medicine & Life Sciences
Hereditary Spastic Paraplegia Medicine & Life Sciences

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Research Output 2005 2017

4 Citations (Scopus)

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

Cytochrome-c Oxidase Deficiency
Failure to Thrive
Pulmonary Hypertension
Milk
Mutation
13 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

Hyperammonemia
Middle East
Brain
physician
Guidelines
4 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

Optic Neuritis
Neurilemmoma
Hand Deformities
Vocal Cord Paralysis
Hoof and Claw