Showing 1 - 5 results of 5 for search 'Morava E', query time: 0.02s
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Infantile Alexander disease with late onset infantile spasms and hypsarrhythmia by Paprocka J, Rzepka-Migut B, Rzepka N, Jezela-Stanek A, Morava E
Published 2019-12-01
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2
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative case... by Lonie, L, Porter, D, Fraser, M, Cole, T, Wise, C, Yates, L, Wakeling, E, Blair, E, Morava, E, Monaco, A, Ragoussis, J
Published 2006Journal article -
3
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. by Robertson, S, Twigg, SR, Sutherland-Smith, A, Biancalana, V, Gorlin, R, Horn, D, Kenwrick, S, Kim, C, Morava, E, Newbury-Ecob, R, Orstavik, K, Quarrell, O, Schwartz, C, Shears, D, Suri, M, Kendrick-Jones, J, Wilkie, A
Published 2003Journal article -
4
Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. by Wade, E, Daniel, P, Jenkins, Z, McInerney-Leo, A, Morgan, T, Addor, M, Ades, L, Bertola, D, Bohring, A, Carter, E, Cho, T, Duba, H, Fletcher, E, Kim, C, Krakow, D, Morava, E, Neuhann, T, Superti-Furga, A, Veenstra-Knol, I, Wieczorek, D, Wilson, L, Hennekam, R, Sutherland-Smith, A, Strom, T, Wilkie, A, Brown, M, Duncan, E, Markie, D, Robertson, S
Published 2016Journal article -
5
Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia by Wade, E, Daniel, P, Jenkins, Z, McInerney-Leo, A, Leo, P, Morgan, T, Addor, M, Adès, L, Bertola, D, Bohring, A, Carter, E, Cho, T, Duba, H, Fletcher, E, Kim, C, Krakow, D, Morava, E, Neuhann, T, Superti-Furga, A, Veenstra-Knol, I, Wieczorek, D, Wilson, L, Hennekam, R, Sutherland-Smith, A, Strom, T, Wilkie, A, Brown, M, Duncan, E, Markie, D, Robertson, S
Published 2016Journal article