Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Autor: Sylvia Varland, Margaret Yoon, Jill A. Rosenfeld, Alison Gardner, Jennifer S. Beighley, Derek Lim, Ning Ma, Sonal Mahida, Magdalena Walkiewicz, Linyan Meng, Christopher Barnett, Claudia A. L. Ruivenkamp, Tjitske Kleefstra, Corrado Romano, Marie Shaw, Andrea M. Lewis, R. Frank Kooy, Avinash V. Dharmadhikari, Nicolette S. den Hollander, Elizabeth E. Palmer, Anke Van Dijck, Geert Vandeweyer, Emanuela Stracuzzi, Sébastien Küry, Kym M. Boycott, Stefania Giusto, Deepti Domingo, Asbjørg Stray-Pedersen, Fan Xia, Mauro Longoni, Grazia M.S. Mancini, Mohammad K. Eldomery, Yaping Yang, Zeynep Coban Akdemir, Evan E. Eichler, Raphael Bernier, Hanyin Cheng, Rebecca Willaert, Arie van Haeringen, Katherine Agre, Parul Jayakar, Sakkubai Naidu, Jozef Gecz, Lucinda Murray, Samantha K Rojas, Mathilde Nizon, Frances A. High, Joseph C. Wu, Richard E. Person, Gregory M. Cooper, Mark A. Corbett, Karin S. Kassahn, Thomas Arnesen, Rolph Pfundt, Erin Conboy, Vernon R. Sutton, Bronwyn Kerr, Holly A.F. Stessman, Ruth Armstrong, Sarah R. Crews, Marjon van Slegtenhorst, Jennifer E. Posey, James R. Lupski, Wendy K. Chung, Alan F. Rope, Jolanda H. Schieving, Robert Kleyner, Michael Parker, Gholson J. Lyon, Candice R. Finnila, Marjolijn J. Jongmans, Bert B.A. de Vries

Publikováno v: American Journal of Human Genetics, 102(5), 985-994. Cell Press
American Journal of Human Genetics
The American journal of human genetics
American Journal of Human Genetics, 102, 5, pp. 985-994
American Journal of Human Genetics, 102, 985-994
American Journal of Human Genetics, 102(5), 985-994

Item does not contain fulltext N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b8329aa9ef559d0081e0a506152257b
https://doi.org/10.1016/j.ajhg.2018.03.004

In Vitro and In Vivo Blood-Brain Barrier Penetration Studies with the Novel Cyanide Antidote Candidate Dimethyl Trisulfide in Mice.

Autor: Kiss, Lóránd, Bocsik, Alexandra, Walter, Fruzsina R., Ross, James, Brown, Denise, Mendenhall, Brooke A., Crews, Sarah R., Lowry, Jana, Coronado, Valerie, Thompson, David E., Sipos, Peter, Szabó-Révész, Piroska, Deli, Mÿria A., Petrikovics, Ilona

Publikováno v: Toxicological Sciences; Dec2017, Vol. 160 Issue 2, p398-407, 10p, 1 Diagram, 2 Charts, 4 Graphs