Genetics

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CNP deficiency causes severe hypomyelinating leukodystrophy in humans
Al-Abdi, L., AL-Murshedi, F., Elmanzalawy, A., Al Habsi, A., Helaby, R., Ganesh, A., Ibrahim, N., Patel, N. & Alkuraya, F. S., May 1 2020, In: Human Genetics. 139, 5, p. 615-622 8 p.
Research output: Contribution to journal › Article › peer-review
3 Citations (Scopus)
Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23
AL-Futaisi, A., Ahmad, F., Al-Kasbi, G., Al-Thihli, K., Koul, R. & Al-Maawali, A., Apr 1 2020, In: Clinical Genetics. 97, 4, p. 666-667 2 p.
Research output: Contribution to journal › Letter › peer-review

2 Citations (Scopus)
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., Al-Thihli, K., Eyaid, W., Ali, R., Ben-Omran, T., Blau, N., El-Hattab, A. W. & Alfadhel, M., Jan 1 2019, In: Pediatric Neurology.
Research output: Contribution to journal › Article › peer-review

Open Access
3 Citations (Scopus)