Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

by Dudding Tracy, Truong Hoa T, Blanchard Christopher L, Elsea Sarah H
Published 2010-10-01

Missense mutations in <it>ITPR1</it> cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

by Huang Lijia, Chardon Jodi, Carter Melissa T, Friend Kathie L, Dudding Tracy E, Schwartzentruber Jeremy, Zou Ruobing, Schofield Peter W, Douglas Stuart, Bulman Dennis E, Boycott Kym M
Published 2012-09-01