Genetic and laboratory diagnostic approach in Niemann Pick disease type C

por McKay Bounford, K., Gissen, P.
Publicado 2014

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD)

por Hughes, L A, McKay-Bounford, K, Webb, E A, Dasani, P, Clokie, S, Chandran, H, McCarthy, L, Mohamed, Z, Kirk, J M W, Krone, N P, Allen, S, Cole, T R P
Publicado 2019