Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4‐related autoinflammatory disease, expansion of the phenotype
Volker‐Touw, C.M.L., Koning, H.D., Giltay, J. C., Kovel, C.G.F., Kempen, T.S., Oberndorff, K.M.E.J, Boes, M.L., Steensel, M.A.M., Well, G.T.J., Blokx, W.A.M., Schalkwijk, J., Simon, A., Frenkel, J., Gijn, M.E.
Published in British journal of dermatology (1951) (01.01.2017)
Published in British journal of dermatology (1951) (01.01.2017)
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Journal Article
Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC 4 ‐related autoinflammatory disease, expansion of the phenotype
Volker‐Touw, C.M.L., Koning, H.D., Giltay, J. C., Kovel, C.G.F., Kempen, T.S., Oberndorff, K.M.E.J, Boes, M.L., Steensel, M.A.M., Well, G.T.J., Blokx, W.A.M., Schalkwijk, J., Simon, A., Frenkel, J., Gijn, M.E.
Published in British journal of dermatology (1951) (01.01.2017)
Published in British journal of dermatology (1951) (01.01.2017)
Get full text
Journal Article
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Küry, Sébastien, Stanton, Janelle E, Hsieh, Tzung-Chien, Rosenfelt, Cory, Most, Victoria, de Konink, Charlotte, Deb, Wallid, Studencka-Turski, Maja, Besnard, Thomas, Hajdukowicz, Anna Marta, Möller, Sophie, Florenceau, Laëtitia, Cuinat, Silvestre, Marsac, Sylvain, Wentzensen, Ingrid, Tuttle, Annabelle, Striesow, Johanna, Golnik, Richard, Jenkins, Laura, Houdayer, Clara, Bonneau, Dominique, Torti, Erin, Begtrup, Amber, Mullegama, Sureni V, Volker-Touw, C M L Nienke, van Gassen, Koen L I, Steindl, Katharina, Rauch, Anita, Ivanovski, Ivan, McDonald, Kimberly, Boothe, Emily, Dauber, Andrew, Baker, Janice, Bernier, Raphael A, Turner, Tychele N, Srivastava, Siddharth, Dies, Kira A, Swanson, Lindsay, Jobling, Rebekah K, Pappas, John, Rabin, Rachel, Niyazov, Dmitriy, Kovak, Karen, Beck, David B, Malicdan, McV, Adams, David R, Ganetzky, Rebecca D, Sedláček, Zdeněk, Hančárová, Miroslava, Al Saif, Hind, Nestler, Berkley, King, Kayla, Prendergast, D'Arcy, Li, Chumei, Geneviève, David, Vitobello, Antonio, Philippe, Christophe, Harel, Tamar, Toker, Ori, Sabir, Ataf, Lim, Derek, Hamilton, Mark, Bryson, Lisa, Cleary, Elaine, Weber, Sacha, Cueto-González, Anna Maria, Gómez-Andrés, David, Codina-Solà, Marta, Ververi, Athina, Pavlidou, Efterpi, Levy, Jonathan, Jurgensmeyer, Sarah, McRae, Anne M, Lessard, Mathieu Kent, D'Agostino, Maria Daniela, De Bie, Isabelle, Wegler, Meret, Jamra, Rami Abou, Bothe, Viktoria, Busch, Larissa M, Völker, Uwe, Hammer, Elke, Wende, Kristian, Cogné, Benjamin, Isidor, Bertrand, Meiler, Jens, Bosc-Rosati, Amélie, Bousquet, Marie-Pierre, Poschmann, Jeremie, Laumonnier, Frédéric, Hildebrand, Peter W, Eichler, Evan E, McWalter, Kirsty, Krawitz, Peter M, Droit, Arnaud, Grabrucker, Andreas M, Bolduc, Francois V, Bézieau, Stéphane, Ebstein, Frédéric, Krüger, Elke
Published in medRxiv : the preprint server for health sciences (26.01.2024)
Published in medRxiv : the preprint server for health sciences (26.01.2024)
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