Showing 1 - 3 results of 3 for search 'Burglen, L', query time: 0.02s
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Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA. by Skordis, L, Dunckley, MG, Burglen, L, Campbell, L, Talbot, K, Patel, S, Melki, J, Davies, K, Dubowitz, V, Muntoni, F
Published 2001Journal article -
2
Loss-of-function mutations in RAB18 cause Warburg micro syndrome. by Bem, D, Yoshimura, S, Nunes-Bastos, R, Bond, F, Kurian, M, Rahman, F, Handley, M, Hadzhiev, Y, Masood, I, Straatman-Iwanowska, A, Cullinane, A, McNeill, A, Pasha, S, Kirby, G, Foster, K, Ahmed, Z, Morton, J, Williams, D, Graham, J, Dobyns, W, Burglen, L, Ainsworth, JR, Gissen, P, Müller, F, Maher, E
Published 2011Journal article -
3
Mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations by Tripathy, R, Leca, I, Van Dijk, T, Weiss, J, Van Bon, B, Sergaki, M, Gstrein, T, Breuss, M, Tian, G, Bahi-Buisson, N, Paciorkowski, A, Pagnamenta, A, Wenninger-Weinzierl, A, Martinez-Reza, M, Landler, L, Lise, S, Taylor, J, Terrone, G, Vitiello, G, Del Giudice, E, Brunetti-Pierri, N, D'Amico, A, Reymond, A, Voisin, N, Bernstein, J, Farrelly, E, Kini, U, Leonard, T, Valence, S, Burglen, L, Armstrong, L, Hiatt, S, Cooper, G, Aldinger, K, Dobyns, W, Mirzaa, G, Pierson, T, Baas, F, Chelly, J, Cowan, N, Keays, D
Published 2018Journal article