检索结果 - Demczko, Matthew M

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease 由 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

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Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function 由 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.

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