Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes

por Zima, Laura, Ceulemans, Sophia, Reiner, Gail, Galosi, Serena, Chen, Dillon, Sahagian, Michelle, Haas, Richard H., Hyland, Keith, Friedman, Jennifer
Publicado 2018

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

por Marbach, Felix, Stoyanov, Georgi, Erger, Florian, Stratakis, Constantine A., Settas, Nikolaos, London, Edra, Rosenfeld, Jill A., Torti, Erin, Haldeman-Englert, Chad, Sklirou, Evgenia, Kessler, Elena, Ceulemans, Sophia, Nelson, Stanley F., Martinez-Agosto, Julian A., Palmer, Christina G. S., Signer, Rebecca H., Andrews, Marisa V., Grange, Dorothy K., Willaert, Rebecca, Person, Richard, Telegrafi, Aida, Sievers, Aaron, Laugsch, Magdalena, Theiß, Susanne, Cheng, YuZhu, Lichtarge, Olivier, Katsonis, Panagiotis, Stocco, Amber, Schaaf, Christian P.
Publicado 2021