Show 10 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author="Elmslie, Frances" or (type exact bookEditor and editor="Elmslie, Frances") Add to list Journal Article A1 open access A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect Meriel McEntagart, Kathleen A Williamson, Jacqueline K Rainger, Ann Wheeler, Anne Seawright, Elfride De Baere (UGent) , Hannah Verdin (UGent) , L Therese Bergendahl, Alan Quigley, Joe Rainger, et al. (2016) AMERICAN JOURNAL OF HUMAN GENETICS. 98(5). p.981-992 Add to list Journal Article A1 Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins Przemyslaw Szafranski, Tomasz Gambin, Avinash V Dharmadhikari, Kadir Caner Akdemir, Shalini N Jhangiani, Jennifer Schuette, Nihal Godiwala, Svetlana A Yatsenko, Jessica Sebastian, Suneeta Madan-Khetarpal, et al. (2016) HUMAN GENETICS. 135(5). p.569-586