Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniqu...

por Martina Rauner, Martina Rauner, Ines Foessl, Melissa M. Formosa, Melissa M. Formosa, Erika Kague, Vid Prijatelj, Vid Prijatelj, Vid Prijatelj, Nerea Alonso Lopez, Bodhisattwa Banerjee, Dylan Bergen, Dylan Bergen, Björn Busse, Ângelo Calado, Eleni Douni, Eleni Douni, Yankel Gabet, Natalia García Giralt, Daniel Grinberg, Nika M. Lovsin, Xavier Nogues Solan, Barbara Ostanek, Nathan J. Pavlos, Fernando Rivadeneira, Ivan Soldatovic, Jeroen van de Peppel, Bram van der Eerden, Wim van Hul, Susanna Balcells, Janja Marc, Sjur Reppe, Sjur Reppe, Sjur Reppe, Kent Søe, Kent Søe, Kent Søe, David Karasik, David Karasik
Publicado 2021

CYP11B1 variants influence skeletal maturation via alternative splicing

por Olja Grgic, Matthew R. Gazzara, Alessandra Chesi, Carolina Medina-Gomez, Diana L. Cousminer, Jonathan A. Mitchell, Vid Prijatelj, Jard de Vries, Enisa Shevroja, Shana E. McCormack, Heidi J. Kalkwarf, Joan M. Lappe, Vicente Gilsanz, Sharon E. Oberfield, John A. Shepherd, Andrea Kelly, Soroosh Mahboubi, Fabio R. Faucz, Richard A. Feelders, Frank H. de Jong, Andre G. Uitterlinden, Jenny A. Visser, Louis R. Ghanem, Eppo B. Wolvius, Leo J. Hofland, Constantine A. Stratakis, Babette S. Zemel, Yoseph Barash, Struan F. A. Grant, Fernando Rivadeneira
Publicado 2021