Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function

Por Tavian, Daniela, Missaglia, Sara, Redaelli, Chiara, Pennisi, Elena M., Invernici, Gloria, Wessalowski, Ruediger, Maiwald, Robert, Arca, Marcello, Coleman, Rosalind A.
Publicado em 2012

Next-generation sequencing in X-linked intellectual disability

Por Tzschach, Andreas, Grasshoff, Ute, Beck-Woedl, Stefanie, Dufke, Claudia, Bauer, Claudia, Kehrer, Martin, Evers, Christina, Moog, Ute, Oehl-Jaschkowitz, Barbara, Di Donato, Nataliya, Maiwald, Robert, Jung, Christine, Kuechler, Alma, Schulz, Solveig, Meinecke, Peter, Spranger, Stephanie, Kohlhase, Jürgen, Seidel, Jörg, Reif, Silke, Rieger, Manuela, Riess, Angelika, Sturm, Marc, Bickmann, Julia, Schroeder, Christopher, Dufke, Andreas, Riess, Olaf, Bauer, Peter
Publicado no Eur J Hum Genet (2015)