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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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, 2022, (Accepted/In press) In: Genetics in Medicine.Research output: Contribution to journal › Article › peer-review
Open Access2 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., Sep 2022, In: Oman Medical Journal. 37, 5, e426.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., 2022, (Accepted/In press) In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review
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Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect
Al-Alawi, B., Harikrishna, B., Al-Thihli, K., Al Zuhabi, S., Ganesh, A., Al Hashami, Z., Al Dhamhmani, Z., Zadjali, R., Al Riyami, N. B. & Zadjali, F., Feb 2022, In: Genes. 13, 2, 248.Research output: Contribution to journal › Article › peer-review
Open Access -
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation
Coolen, M., Altin, N., Rajamani, K., Pereira, E., Siquier-Pernet, K., Puig Lombardi, E., Moreno, N., Barcia, G., Yvert, M., Laquerrière, A., Pouliet, A., Nitschké, P., Boddaert, N., Rausell, A., Razavi, F., Afenjar, A., Billette de Villemeur, T., Al-Maawali, A., Al-Thihli, K., Baptista, J., & 7 others, May 5 2022, In: American Journal of Human Genetics. 109, 5, p. 909-927 19 p.Research output: Contribution to journal › Article › peer-review