Browse by Author or Creator

2021

1. Tariq, M., Latif, M., Inam, M., Jan, A., Bibi, N., Mohamoud, H. S. A., Ali, I., Ahmad, H., Khan, A., Nasir, J., Wadood, A. and Jelani, M. (2021) Whole exome sequencing reveals a homozygous SGCB variant in a Pakhtun family with limb girdle muscular dystrophy (LGMDR4) phenotype. Gene Reports. 22 2452-0144.

2019

1. Jelani, M., Dooley, H. C., Gubas, A., Mohamoud, H. S. A., Masood Khan, M. T., Ali, Z., Kang, C., Rahim, F., Jan, A., Vadgama, N., Khan, M. I., Al-Aama, J. Y., Khan, A., Tooze, S. A. and Nasir, J. (2019) A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities. Brain. 142(5), pp. 1242-1254. 0006-8950.

2018

1. Mohamoud, H. S., Ahmed, S., Jelani, M., Alrayes, N., Childs, K., Vadgama, N., Almramhi, M. M., Al-Aama, J. Y., Goodbourn, S. and Nasir, J. (2018) A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features. Scientific Reports. 8(1) 2045-2322.