Publications

Export 2 results:
Author Title [ Year(Asc)]
Filters: Author is Moore, Steven A  [Clear All Filters]
2019
Lee, A. J. et al. Clinical, genetic, and pathologic characterization of Mexican founder mutation c.1387A>G. Neurol Genet 5, e315 (2019).
2017
Shaw, N. D. et al. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet 49, 238-248 (2017).