The spectrum of mutations that underlie the DOK7 neuromuscular junction synaptopathy, and the patient response to treatment by Beeson, D, Cossins, J, Maxwell, S, Liu, W, Oldridge, M, Finlayson, S, Robb, S, Palace, J

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome. by Cossins, J, Liu, W, Belaya, K, Maxwell, S, Oldridge, M, Lester, T, Robb, S, Beeson, D

Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. by Johnson, D, Kan, S, Oldridge, M, Trembath, R, Roche, P, Esnouf, R, Giele, H, Wilkie, A

Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity. by Oldridge, M, Temple, I, Santos, H, Gibbons, R, Mustafa, Z, Chapman, K, Loughlin, J, Wilkie, A