-
Sambuughin, N, Yau, KS, Olivé, M, Duff, RM, Bayarsaikhan, M, Lu, S, Gonzalez-Mera, L, Sivadorai, P, Nowak, KJ, Ravenscroft, G, et al.
Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores.
American Journal of Human Genetics
88(1)
:
122
2011
view publication
-
Payne, JM, Hyman, SL, Shores, EA, North, KN.
Assessment of executive function and attention in children with neurofibromatosis type 1: relationships between cognitive measures and real-world behavior..
Child Neuropsychol
17(4)
:
313 -329
2011
view publication
-
Sambuughin, N, Yau, KS, Olivé, M, Duff, RM, Bayarsaikhan, M, Lu, S, Gonzalez-Mera, L, Sivadorai, P, Nowak, KJ, Ravenscroft, G, et al.
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores..
Am J Hum Genet
87(6)
:
842 -847
2010
view publication
-
Yiu, EM, Klausegger, A, Waddell, L, Tran, K, Chow, CW, North, K, Murrell, D, Ryan, MM.
59. Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.
Journal of Clinical Neuroscience
17(12)
:
1628
2010
view publication
-
Tooley, LD, Zamurs, LK, Beecher, N, Baker, NL, Peat, RA, Adams, NE, Bateman, JF, North, KN, Baldock, C, Lamandé, SR.
Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy..
J Biol Chem
285(43)
:
33567 -33576
2010
view publication