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="Mazzanti, Laura*" or (type exact bookEditor and editor="Mazzanti, Laura*") Add to list Journal Article A1 open access Barber-Say syndrome and ablepharon-macrostomia syndrome : a patient's view Beatrice De Maria, Tresia de Jager, Caitlin Sarubbi, Oliver Bartsch, Alberto Bianchi, Francesco Brancati, Hon-Yin B Chung, Albert David, Ariana Kariminejad, Maura Foresti, et al. (2017) MOLECULAR SYNDROMOLOGY. 8(4). p.172-178 Add to list Journal Article A1 Barber-Say syndrome and Ablepharon-Macrostomia syndrome : an overview Beatrice De Maria, Laura Mazzanti, Nathalie Roche (UGent) and Raoul C Hennekam (2016) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 170(8). p.1989-2001 Add to list Journal Article A1 Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes Shannon Marchegiani, Taylor Davis, Federico Tessadori, Gijs van Haaften, Francesco Brancati, Alexander Hoischen, Haigen Huang, Elise Valkanas, Barbara Pusey, Denny Schanze, et al. (2015) AMERICAN JOURNAL OF HUMAN GENETICS. 97(1). p.99-110