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  • Jamal Nasir
2019

A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities

Nasir, J., 10 Apr 2019, In : Brain. 142, 5, p. 1242-1254 13 p.

Research output: Contribution to JournalArticle

Open Access

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

Vadgama, N., Pittman, A., Simpson, M., Nirmalananthan, N., Murray, R., Yoshikawa, T., De Rijk, P., Rees, E., Kirov, G., Hughes, D., Fitzgerald, T., Kristiansen, M., Pearce, K., Cerveira, E., Zhu, Q., Zhang, C., Lee, C., Hardy, J. & Nasir, J., 18 Mar 2019, In : European journal of human genetics : EJHG. 27, p. 1121-1133 13 p.

Research output: Contribution to JournalArticle

Open Access
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Distinct proteomic profiles in monozygotic twins discordant for ischaemic stroke

Vadgama, N., Lamont, D., Hardy, J., Nasir, J. & Lovering, R. C., 15 Jun 2019, In : Molecular and Cellular Biochemistry. 456, 1-2, p. 157-165 9 p.

Research output: Contribution to JournalArticle

Open Access
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2018

A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

Mohamoud, H. S., Ahmed, S., Jelani, M., Alrayes, N., Childs, K., Vadgama, N., Almramhi, M. M., Al-Aama, J. Y., Goodbourn, S. & Nasir, J., 1 Dec 2018, In : Scientific Reports. 8, 1, 2053.

Research output: Contribution to JournalArticle

Open Access
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