Therapeutic and diagnostic advances in Stickler syndrome

por Snead, Martin, Martin, Howard, Bale, Peter, Shenker, Nick, Baguley, David, Alexander, Philip, McNinch, Annie, Poulson, Arabella
Publicado 2020

Auditory dysfunction in type 2 Stickler Syndrome

por Alexander, Philip, Gomersall, Philip, Stancel-Lewis, Jack, Fincham, Gregory Scott, Poulson, Arabella, Richards, Allan, McNinch, Annie, Baguley, David M., Snead, Martin
Publicado 2020

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss

por Richards, Allan J, Fincham, Gregory S, McNinch, Annie, Hill, David, Poulson, Arabella V, Castle, Bruce, Lees, Melissa M, Moore, Anthony T, Scott, John D, Snead, Martin P
Publicado 2013