S178: A NEW HEREDITARY SYNDROME WITH SEVERE NEUTROPENIA AND NEUROLOGICAL INVOLVEMENT CAUSED BY THE AUTOSOMAL RECESSIVE COPZ1 MUTATION

por Borbaran Bravo, Natalia, Doll, Larissa, Deordieva, Ekaterina, Bräuning, Sandro, Dannenmann, Benjamin, Elgamacy, Mohammad, Zakharova, Viktoria, Lengerke, Claudia, Zeidler, Cornelia, Welte, Karl, Shcherbina, Anna, Skokowa, Julia, Klimiankou, Maksim
Publicado 2023

Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients

por Le Coz, Carole, Nguyen, David N., Su, Chun, Nolan, Brian E., Albrecht, Amanda V., Xhani, Suela, Sun, Di, Demaree, Benjamin, Pillarisetti, Piyush, Khanna, Caroline, Wright, Francis, Chen, Peixin Amy, Yoon, Samuel, Stiegler, Amy L., Maurer, Kelly, Garifallou, James P., Rymaszewski, Amy, Kroft, Steven H., Olson, Timothy S., Seif, Alix E., Wertheim, Gerald, Grant, Struan F.A., Vo, Linda T., Puck, Jennifer M., Sullivan, Kathleen E., Routes, John M., Zakharova, Viktoria, Shcherbina, Anna, Mukhina, Anna, Rudy, Natasha L., Hurst, Anna C.E., Atkinson, T. Prescott, Boggon, Titus J., Hakonarson, Hakon, Abate, Adam R., Hajjar, Joud, Nicholas, Sarah K., Lupski, James R., Verbsky, James, Chinn, Ivan K., Gonzalez, Michael V., Wells, Andrew D., Marson, Alex, Poon, Gregory M.K., Romberg, Neil
Publicado 2021