Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia

Por Ridanpaa, M, Ward, L, Rockas, S, Sarkioja, M, Makela, H, Susic, M, Glorieux, F, Cole, W, Makitie, O
Publicado em 2003

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.

Por Wenstrup, R J, Florer, J B, Willing, M C, Giunta, C, Steinmann, B, Young, F, Susic, M, Cole, W G
Publicado em 2000

Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)

Por Laine, C M, Chung, B D, Susic, M, Prescott, T, Semler, O, Fiskerstrand, T, D'Eufemia, P, Castori, M, Pekkinen, M, Sochett, E, Cole, W G, Netzer, C, Mäkitie, O
Publicado em 2011