The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency

द्वारा Turvey, Stuart E, Durandy, Anne, Fischer, Alain, Fung, Shan-Yu, Geha, Raif S., Gewies, Andreas, Giese, Thomas, Greil, Johann, Keller, Bärbel, McKinnon, Margaret L, Neven, Bénédicte, Rozmus, Jacob, Ruland, Jürgen, Snow, Andrew L., Stepensky, Polina, Warnatz, Klaus
प्रकाशित 2014

Growth Hormone Deficiency in MCAP: An Association with Activating Mutations in PIK3CA

द्वारा Davis, Shanlee, Ware, Meredith A., Zeiger, Jordan, Deardorff, Matthew A., Grand, Katheryn, Grimberg, Adda, Hsu, Stephanie, Kelsey, Megan, Majidi, Shideh, Mathew, Revi P., Napier, Melanie, Nokoff, Natalie, Prasad, Chitra, Riggs, Andrew C., McKinnon, Margaret L., Mirzaa, Ghayda
में प्रकाशित Am J Med Genet A (2019)

Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

द्वारा Cohen, Ana S.A., Yap, Damian B., Lewis, M.E. Suzanne, Chijiwa, Chieko, Ramos‐Arroyo, Maria A., Tkachenko, Natália, Milano, Valentina, Fradin, Mélanie, McKinnon, Margaret L., Townsend, Katelin N., Xu, Jieqing, Van Allen, M.I., Ross, Colin J.D., Dobyns, William B., Weaver, David D., Gibson, William T.
में प्रकाशित Hum Mutat (2016)