ORCA
Online Research @ Cardiff
Browse by Current Cardiff authors
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Up a levelNumber of items: 2.
Kraft, Florian, Rodriguez-Aliaga, Piere, Yuan, Weimin, Franken, Lena, Zajt, Kamil, Hasan, Dimah, Lee, Ting-Ting, Flex, Elisabetta, Hentschel, Andreas, Innes, A. Micheil, Zheng, Bixia, Julia Suh, Dong Sun, Knopp, Cordula, Lausberg, Eva, Krause, Jeremias, Zhang, Xiaomeng, Trapane, Pamela, Carroll, Riley, McClatchey, Martin, Fry, Andrew E.  ORCID: https://orcid.org/0000-0001-9778-6924, Wang, Lisa, Giesselmann, Sebastian, Hoang, Hieu, Baldridge, Dustin, Silverman, Gary A., Radio, Francesca Clementina, Bertini, Enrico, Ciolfi, Andrea, Blood, Katherine A, de Sainte Agathe, Jean-Madeleine, Charles, Perrine, Bergant, Gaber, Čuturilo, Goran, Peterlin, Borut, Diderich, Karin, Streff, Haley, Robak, Laurie, Oegema, Renske, van Binsbergen, Ellen, Herriges, John, Saunders, Carol J., Maier, Andrea, Wolking, Stefan, Weber, Yvonne, Lochmüller, Hanns, Meyer, Stefanie, Aleman, Alberto, Polavarapu, Kiran, Nicolas, Gael, Goldenberg, Alice, Guyant, Lucie, Pope, Kathleen, Hehmeyer, Katherine N., Monaghan, Kristin G., Quade, Annegret, Smol, Thomas, Caumes, Roseline, Duerinckx, Sarah, Depondt, Chantal, Van Paesschen, Wim, Rieubland, Claudine, Poloni, Claudia, Guipponi, Michel, Arcioni, Severine, Meuwissen, Marije, Jansen, Anna C., Rosenblum, Jessica, Haack, Tobias B., Bertrand, Miriam, Gerstner, Lea, Magg, Janine, Riess, Olaf, Schulz, Jörg B., Wagner, Norbert, Wiesmann, Martin, Weis, Joachim, Eggermann, Thomas, Begemann, Matthias, Roos, Andreas, Häusler, Martin, Schedl, Tim, Tartaglia, Marco, Bremer, Juliane, Pak, Stephen C., Frydman, Judith, Elbracht, Miriam and Kurth, Ingo
2024.
Brain malformations and seizures by impaired chaperonin function of TRiC.
Science
386
(6721)
, pp. 516-525.
10.1126/science.adp8721
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McClatchey, Martin A., du Toit, Zachary D., Vaughan, Rhys, Whatley, Sharon D., Martins, Sara, Hegde, Shivaram, Naude, Johann te Water, Thomas, David H., Griffiths, David F., Clarke, Angus J. ORCID: https://orcid.org/0000-0002-1200-9286 and Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924
2020.
Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation.
European Journal of Medical Genetics
63
(9)
, 103972.
10.1016/j.ejmg.2020.103972
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