Show 10 5 10 15 20 50 100 250 Sort by year (new to old) Actions Save this search Download search results Subscribe to news feed Your filters: cql: author="McDonald, Marie" or (type any "bookEditor issueEditor" and editor="McDonald, Marie") Add to list Journal Article A1 open access High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlation Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, Meagan Cochran, Mary-Alice Abbott, Joan Atkin, et al. (2015) HUMAN MUTATION. 36(11). p.1052-1063 Add to list Journal Article A1 Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder Douglas R Stewart, Hilde Brems, Alicia G Gomes, Sarah L Ruppert, Tom Callens, Jennifer Williams, Kathleen Claes (UGent) , Michael B Bober, Rachel Hachen, Leonard B Kaban, et al. (2014) GENETICS IN MEDICINE. 16(6). p.448-459