Showing 1 - 3 results of 3 for search 'Hietala, M', query time: 0.06s
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Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. by Müller, J, Herczegfalvi, A, Vilchez, J, Colomer, J, Bachinski, L, Mihaylova, V, Santos, M, Schara, U, Deschauer, M, Shevell, M, Poulin, C, Dias, A, Soudo, A, Hietala, M, Aärimaa, T, Krahe, R, Karcagi, V, Huebner, A, Beeson, D, Abicht, A, Lochmüller, H
Published 2007Journal article -
2
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer. by Ahvenainen, T, Lehtonen, H, Lehtonen, R, Vahteristo, P, Aittomäki, K, Baynam, G, Dommering, C, Eng, C, Gruber, S, Grönberg, H, Harvima, R, Herva, R, Hietala, M, Kujala, M, Kääriäinen, H, Sunde, L, Vierimaa, O, Pollard, P, Tomlinson, I, Björck, E, Aaltonen, L, Launonen, V
Published 2008Journal article -
3
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. by Tomlinson, I, Alam, N, Rowan, A, Barclay, E, Jaeger, E, Kelsell, D, Leigh, I, Gorman, P, Lamlum, H, Rahman, S, Roylance, R, Olpin, S, Bevan, S, Barker, K, Hearle, N, Houlston, R, Kiuru, M, Lehtonen, R, Karhu, A, Vilkki, S, Laiho, P, Eklund, C, Vierimaa, O, Aittomäki, K, Hietala, M
Published 2002Journal article