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

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

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

Autor 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.
Vydáno 2008

WNT1 Mutations in Early-onset Osteoporosis and Osteogenesis Imperfecta

Autor 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
Vydáno 2013