Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL

Por Abdelfatah, Nelly, McComiskey, David A, Doucette, Lance, Griffin, Anne, Moore, Susan J, Negrijn, Carol, Hodgkinson, Kathy A, King, Justin J, Larijani, Mani, Houston, Jim, Stanton, Susan G, Young, Terry-Lynn
Publicado em 2013

Clinical and Genetic Epidemiology of Bardet–Biedl Syndrome in Newfoundland: A 22-Year Prospective, Population-Based, Cohort Study

Por Moore, Susan J., Green, Jane S., Fan, Yanli, Bhogal, Ashvinder K., Dicks, Elizabeth, Fernandez, Bridget A., Stefanelli, Mark, Murphy, Christopher, Cramer, Benvon C., Dean, John C.S., Beales, Philip L., Katsanis, Nicholas, Bassett, Anne S., Davidson, William S., Parfrey, Patrick S.
Publicado em 2005