Search Results - Demczko, Matthew M
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Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease by Williams, Katie B, Brigatti, Karlla W, Puffenberger, Erik G, Gonzaga-Jauregui, Claudia, Griffin, Laurie B, Martinez, Erick D, Wenger, Olivia K, Yoder, Mark A, Kandula, Vinay V R, Fox, Michael D, Demczko, Matthew M, Poskitt, Laura, Furuya, Katryn N, Reid, Jeffrey G, Overton, John D, Baras, Aris, Miles, Lili, Radhakrishnan, Kadakkal, Carson, Vincent J, Antonellis, Anthony, Jinks, Robert N, Strauss, Kevin A
Published 2019Text -
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Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function by Aluri, Jahnavi, Bach, Alicia, Kaviany, Saara, Chiquetto Paracatu, Luana, Kitcharoensakkul, Maleewan, Walkiewicz, Magdalena A., Putnam, Christopher D., Shinawi, Marwan, Saucier, Nermina, Rizzi, Elise M., Harmon, Michael T., Keppel, Molly P., Ritter, Michelle, Similuk, Morgan, Kulm, Elaine, Joyce, Michael, de Jesus, Adriana A., Goldbach-Mansky, Raphaela, Lee, Yi-Shan, Cella, Marina, Kendall, Peggy L., Dinauer, Mary C., Bednarski, Jeffrey J., Bemrich-Stolz, Christina, Canna, Scott W., Abraham, Shirley M., Demczko, Matthew M., Powell, Jonathan, Jones, Stacie M., Scurlock, Amy M., De Ravin, Suk See, Bleesing, Jack J., Connelly, James A., Rao, V. Koneti, Schuettpelz, Laura G., Cooper, Megan A.
Published 2021Text