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

द्वारा 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.
में प्रकाशित Circ Cardiovasc Genet (2016)

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

द्वारा 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
प्रकाशित 2008

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

द्वारा 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.
प्रकाशित 1999