Osteoporosis-pseudoglioma syndrome: Description of 9 new cases and beneficial response to bisphosphonates

Por Streeten, Elizabeth A., McBride, Daniel, Puffenberger, Eric, Hoffman, Marc E., Pollin, Toni I., Donnelly, Patrick, Sack, Paul, Morton, Holmes
Publicado em 2008

Genetic heterogeneity in families with hereditary multiple exostoses

Por Cook, April, Raskind, Wendy, Blanton, Susan Halloran, Pauli, Richard M., Gregg, Ronald G., Francomano, Claire A., Puffenberger, Eric, Conrad, Ernest U., Schmale, Gregory, Schellenberg, Gerard, Wijsman, Ellen, Hecht, Jacqueline T., Wells, Dan, Wagner, Michael J.
Publicado em 1993

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

Por Bögershausen, Nina, Shahrzad, Nassim, Chong, Jessica X., von Kleist-Retzow, Jürgen-Christoph, Stanga, Daniela, Li, Yun, Bernier, Francois P., Loucks, Catrina M., Wirth, Radu, Puffenberger, Eric G., Hegele, Robert A., Schreml, Julia, Lapointe, Gabriel, Keupp, Katharina, Brett, Christopher L., Anderson, Rebecca, Hahn, Andreas, Innes, A. Micheil, Suchowersky, Oksana, Mets, Marilyn B., Nürnberg, Gudrun, McLeod, D. Ross, Thiele, Holger, Waggoner, Darrel, Altmüller, Janine, Boycott, Kym M., Schoser, Benedikt, Nürnberg, Peter, Ober, Carole, Heller, Raoul, Parboosingh, Jillian S., Wollnik, Bernd, Sacher, Michael, Lamont, Ryan E.
Publicado em 2013