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

Yazar: 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
Baskı/Yayın Bilgisi 2014

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

Yazar: 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
Yayımlandı Am J Med Genet A (2019)

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

Yazar: 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.
Yayımlandı Hum Mutat (2016)