Items where Author is "Zaki, M. S."

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Ghosh, S. G. and Scala, M. and Beetz, C. and Helman, G. and Stanley, V. and Yang, X. and Breuss, M. W. and Mazaheri, N. and Selim, L. and Hadipour, F. and Pais, L. and Stutterd, C. A. and Karageorgou, V. and Begtrup, A. and Crunk, A. and Juusola, J. and Willaert, R. and Flore, L. A. and Kennelly, K. and Spencer, C. and Brown, M. and Trapane, P. and Hurst, A. C. E. and Lane Rutledge, S. and Goodloe, D. H. and McDonald, M. T. and Shashi, V. and Schoch, K. and Tomoum, H. and Zaitoun, R. and Hadipour, Z. and Galehdari, H. and Pagnamenta, A. T. and Mojarrad, M. and Sedaghat, A. and Dias, P. and Quintas, S. and Eslahi, A. and Shariati, G. and Bauer, P. and Simons, C. and Houlden, H. and Issa, M. Y. and Zaki, M. S. and Maroofian, R. and Gleeson, J. G. (2020) A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. European Journal of Human Genetics.

Makrythanasis, P. and Maroofian, R. and Stray-Pedersen, A. and Musaev, D. and Zaki, M. S. and Mahmoud, I. G. and Selim, L. and Elbadawy, A. and Jhangiani, S. N. and Coban Akdemir, Z. H. and Gambin, T. and Sorte, H. S. and Heiberg, A. and McEvoy-Venneri, J. and James, K. N. and Stanley, V. and Belandres, D. and Guipponi, M. and Santoni, F. A. and Ahangari, N. and Tara, F. and Doosti, M. and Iwaszkiewicz, J. and Zoete, V. and Backe, P. H. and Hamamy, H. and Gleeson, J. G. and Lupski, J. R. and Karimiani, E. G. and Antonarakis, S. E. (2018) Biallelic variants in KIF14 cause intellectual disability with microcephaly. European Journal of Human Genetics, 26 (3). pp. 330-339.

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