Holoprosencephaly and Agnathia Spectrum: Presentation of Two New Patients and Review of the Literature

بواسطة Kauvar, Emily F., Solomon, Benjamin D., Curry, Cynthia J.R., van Essen, Anthonie J., Janssen, Nicole, Dutra, Amalia, Roessler, Erich, Muenke, Maximilian
منشور في 2010

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27 and 21q2

بواسطة Dobyns, William B., Mirzaa, Ghayda, Christian, Susan L., Petras, Kristin, Roseberry, Jessica, Clark, Gary D., Curry, Cynthia J.R., McDonald-McGinn, Donna, Medne, Livija, Zackai, Elaine, Parsons, Julie, Zand, Dina J., Hisama, Fuki M., Walsh, Christopher A., Leventer, Richard J., Martin, Christa L., Gajecka, Marzena, Shaffer, Lisa G.
منشور في 2008

WNT1 Mutations in Early-onset Osteoporosis and Osteogenesis Imperfecta

بواسطة Laine, Christine M., Joeng, Kyu Sang, Campeau, Philippe M., Kiviranta, Riku, Tarkkonen, Kati, Grover, Monica, Lu, James T., Pekkinen, Minna, Wessman, Maija, Heino, Terhi J., Nieminen-Pihala, Vappu, Aronen, Mira, Laine, Tero, Kröger, Heikki, Cole, William G., Lehesjoki, Anna-Elina, Nevarez, Lisette, Krakow, Deborah, Curry, Cynthia J.R., Cohn, Daniel H., Gibbs, Richard A., Lee, Brendan H., Mäkitie, Outi
منشور في 2013