Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.

por Aaron D Besterman, Thorsten Althoff, Peter Elfferich, Irma Gutierrez-Mejia, Joshua Sadik, Jonathan A Bernstein, Yvette van Ierland, Anja A Kattentidt-Mouravieva, Mark Nellist, Jeff Abramson, Julian A Martinez-Agosto
Publicado 2021

What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘I...

por Anna G. W. Rosenberg, Minke R. A. Pater, Karlijn Pellikaan, Kirsten Davidse, Anja A. Kattentidt-Mouravieva, Rogier Kersseboom, Anja G. Bos-Roubos, Agnies van Eeghen, José M. C. Veen, Jiske J. van der Meulen, Nina van Aalst-van Wieringen, Franciska M. E. Hoekstra, Aart J. van der Lely, Laura C. G. de Graaff
Publicado 2021