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
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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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Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
Grünert, S. C., Derks, T. G. J., Adrian, K., Al-Thihli, K., Ballhausen, D., Bidiuk, J., Bordugo, A., Boyer, M., Bratkovic, D., Brunner-Krainz, M., Burlina, A., Chakrapani, A., Corpeleijn, W., Cozens, A., Dawson, C., Dhamko, H., Milosevic, M. D., Eiroa, H., Finezilber, Y., Moura de Souza, C. F., & 44 others, Aug 2022, In: Genetics in Medicine. 24, 8, p. 1781-1788 8 p.Research output: Contribution to journal › Article › peer-review
Open Access10 Citations (Scopus) -
Establishment and Validation of Reference Values for Amino Acids and Acylcarnitines in Dried Blood Spots for Omani Newborns Using Tandem Mass Spectrometry
Al-Riyami, S., Al-Manei, M., Al-Fahdi, A. & Al-Thihli, K., Sept 2022, In: Oman Medical Journal. 37, 5, e426.Research output: Contribution to journal › Article › peer-review
Open Access -
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain
Averdunk, L., Al-Thihli, K., Surowy, H., Lüdecke, H. J., Drechsler, M., Yigit, G., Smorag, L., Al Hallak, B., Li, Y., Altmüller, J., Guthoff, T., Wallot, M., Nürnberg, P., Wollnik, B., Jamra, R. A., Al-Maawali, A. & Wieczorek, D., 2022, (Accepted/In press) In: Clinical Genetics.Research output: Contribution to journal › Article › peer-review
Open Access -
Further phenotypic delineation of Alazami syndrome
Al-Hinai, A., Al-Hashmi, S., Ganesh, A., Al-Hashmi, N., Al-Saegh, A., Al-Mamari, W., Al-Murshedi, F., Al-Thihli, K., Al-Kindi, A. & Al-Maawali, A., May 14 2022, In: American Journal of Medical Genetics, Part A. 188, 8, p. 2485-2490 6 p.Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus)