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Group by: Item Type | Date
Number of items: 2.
2021
- 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
- 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.