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
Profiles
Research output
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Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly
Schnabel, F., Schuler, E., Al-Maawali, A., Chaurasia, A., Syrbe, S., Al-Kindi, A., Bhavani, G. S. L., Shukla, A., Altmüller, J., Nürnberg, P., Banka, S., Girisha, K. M., Li, Y., Wollnik, B. & Yigit, G., Apr 2023, In: Human Genetics. 142, 4, p. 543-552 10 p.Research output: Contribution to journal › Article › peer-review
Open Access -
MLIP-Associated Myopathy: A Case Report and Review of the Literature
Al Amrani, F., Al-Thihli, K., Narayanappa, G. & Al-Maawali, A., 2023, In: Journal of Neuromuscular Diseases. 10, 2, p. 293-299 7 p.Research output: Contribution to journal › Article › peer-review
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Very long-chain acyl-CoA dehydrogenase deficiency and type I diabetes mellitus: Case report and management challenges
Al-Busaidi, S. A., Al Nou'mani, J. A., Al-Falahi, Z., Al-Farsi, R., Kumar, S., Al-Murshedi, F., Awlad-Thani, K., Al Nabhani, A. & Al Alawi, A. M., Jun 2023, In: Clinical Biochemistry. 116, p. 16-19 4 p.Research output: Contribution to journal › Article › peer-review