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An integrated modelling methodology for estimating the prevalence of centronuclear myopathy by Vandersmissen, I, Biancalana, V, Servais, L, Dowling, JJ, Stichele, GV, Van Rooijen, S, Thielemans, L
Published 2018Journal article -
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Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males. by Biancalana, V, Taine, L, Bouix, J, Finck, S, Chauvin, A, De Verneuil, H, Knight, S, Stoll, C, Lacombe, D, Mandel, J
Published 1996Journal 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 -
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X-linked myotubular myopathy: A prospective international natural history study by Servais, L, Annoussamy, M, Lilien, C, Gidaro, T, Gargaun, E, Chê, V, Schara, U, Gangfuß, A, D'Amico, A, Dowling, JJ, Darras, BT, Daron, A, Hernandez, A, de Lattre, C, Arnal, J-M, Mayer, M, Cuisset, J-M, Vuillerot, C, Fontaine, S, Bellance, R, Biancalana, V, Buj-Bello, A, Hogrel, J-Y, Landy, H
Published 2019Journal article