Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder with Skeletal Muscle Hypertrophy and Premature Cardiac Death

بواسطة Xue, Yuan, Schoser, Benedikt, Rao, Aliz R., Quadrelli, Roberto, Vaglio, Alicia, Rupp, Verena, Beichler, Christine, Nelson, Stanley F., Schapacher-Tilp, Gudrun, Windpassinger, Christian, Wilcox, William R.
الحاوية / القاعدة Circ Cardiovasc Genet (2016)

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

بواسطة Rock, Matthew J, Prenen, Jean, Funari, Vincent A, Funari, Tara L, Merriman, Barry, Nelson, Stanley F, Lachman, Ralph S, Wilcox, William R, Reyno, Soraya, Quadrelli, Roberto, Vaglio, Alicia, Owsianik, Grzegorz, Janssens, Annelies, Voets, Thomas, Ikegawa, Shiro, Nagai, Toshiro, Rimoin, David L, Nilius, Bernd, Cohn, Daniel H
منشور في 2008

Different TBX5 interactions in heart and limb defined by Holt–Oram syndrome mutations

بواسطة Basson, Craig T., Huang, Taosheng, Lin, Robert C., Bachinsky, David R., Weremowicz, Stanislawa, Vaglio, Alicia, Bruzzone, Rina, Quadrelli, Roberto, Lerone, Margherita, Romeo, Giovanni, Silengo, Margherita, Pereira, Alexandre, Krieger, Jose, Mesquita, Sonia F., Kamisago, Mitsuhiro, Morton, Cynthia C., Pierpont, Mary Ella M., Müller, Chistoph W., Seidman, J. G., Seidman, Christine E.
منشور في 1999