Research output per year
Research output per year
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects
Almannai, M., Felemban, R., Saleh, M. A., Faqeih, E. A., Alasmari, A., AlHashem, A., Mohamed, S., Sunbul, R., Al-Murshedi, F., AlThihli, K., Eyaid, W., Ali, R., Ben-Omran, T., Blau, N., El-Hattab, A. W. & Alfadhel, M., 2019, In: Pediatric Neurology. 96, p. 40-47 8 p.Research output: Contribution to journal › Article › peer-review
14 Citations (Scopus) -
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities
Alrakaf, L., Al-Owain, M. A., Busehail, M., Alotaibi, M. A., Monies, D., Aldhalaan, H. M., Alhashem, A., Al-Hassnan, Z. N., Rahbeeni, Z. A., Murshedi, F. A., Ani, N. A., Al-Maawali, A., Ibrahim, N. A., Abdulwahab, F. M., Alsagob, M., Hashem, M. O., Ramadan, W., Abouelhoda, M., Meyer, B. F. & Kaya, N. & 2 others, , Mar 2018, In: American Journal of Medical Genetics, Part A. 176, 3, p. 715-721 7 p.Research output: Contribution to journal › Article › peer-review
7 Citations (Scopus) -
Alpha-Methylacetoacetic Aciduria in an Rh-Negative Pregnant Omani Woman With Breech Presentation Delivered With Favourable Outcome
Kiran, S., Murshedi, F. A., Jabri, S. A. & Devi, M. N., Apr 2019, In: Journal of Obstetrics and Gynaecology Canada. 41, 4, p. 492-494 3 p.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus) -
Author Correction: PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing: PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing (Nature Metabolism, (2023), 5, 3, (495-515), 10.1038/s42255-023-00766-2)
Cikes, D., Elsayad, K., Sezgin, E., Koitai, E., Torma, F., Orthofer, M., Yarwood, R., Heinz, L. X., Sedlyarov, V., Miranda, N. D., Taylor, A., Grapentine, S., al-Murshedi, F., Abot, A., Weidinger, A., Kutchukian, C., Sanchez, C., Cronin, S. J. F., Novatchkova, M. & Kavirayani, A. & 18 others, , Apr 6 2023, In: Nature Metabolism. 5, 4, p. 711 1 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy
Al-Maawali, A., Al-Murshedi, F., Al-Futaisi, A., Mansy, A., Al-Habsi, A. & Girisha, K. M., Nov 20 2023, In: European Journal of Human Genetics.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus)
Press/Media
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New Disease Progression Findings from Sultan Qaboos University Described (Transient response to high-dose niacin therapy in a patient with NAXE deficiency)
Al-Thihli, K., ALfutaisi, A. & AL-Murshedi, F.
7/23/24
1 item of Media coverage
Press/Media: Press / Media
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Researchers from University of Birmingham Describe Findings in Life Science (Inactivation Of Drg1, Encoding a Translation Factor Gtpase, Causes a Recessive Neurodevelopmental Disorder)
1/5/24
1 item of Media coverage
Press/Media: Press / Media
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Reports on Hypoglycemia Findings from Sultan Qaboos University Provide New Insights (Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families)
Al-Thihli, K., ALfutaisi, A., AL-Moamari, W. & AL-Murshedi, F.
11/21/23
1 item of Media coverage
Press/Media: Press / Media
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Study Results from Sultan Qaboos University Hospital Update Understanding of Maple Syrup Urine Disease (Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination)
Al-Thihli, K., AL-Murshedi, F. & Al-Shidhani, A.
9/11/23
1 item of Media coverage
Press/Media: Press / Media