CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

Authors: Nafisa Nuzhat, Kristof Van Schil, Sandra Liakopoulos, Miriam Bauwens, Alfredo Dueñas Rey, Stephan Käseberg, Melanie Jäger, Jason R. Willer, Jennifer Winter, Hanh M. Truong, Nuria Gruartmoner, Mattias Van Heetvelde, Joachim Wolf, Robert Merget, Sabine Grasshoff-Derr, Jo Van Dorpe, Anne Hoorens, Heidi Stöhr, Luke Mansard, Anne-Françoise Roux, Thomas Langmann, Katharina Dannhausen, David Rosenkranz, Karl M. Wissing, Michel Van Lint, Heidi Rossmann, Friederike Häuser, Peter Nürnberg, Holger Thiele, Ulrich Zechner, Jillian N. Pearring, Elfride De Baere, Hanno J. Bolz

Source: The Journal of Clinical Investigation, Vol 133, Iss 8 (2023)

Subject Terms: Cell biology, Genetics, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1558-8238

Access URL: https://doaj.org/article/5751fc3eb5124e36990ef17731c43da6

Inter- and Intraobserver Variation in the Assessment of Preoperative Colostograms in Male Anorectal Malformations: An ARM-Net Consortium Survey

Authors: Paola Midrio, Iris A. L. M. van Rooij, Giulia Brisighelli, Aracelli Garcia, Maria Fanjul, Paul Broens, Barbara D. Iacobelli, Carlos Giné, Gabriele Lisi, Cornelius E. J. Sloots, Francesco Fascetti Leon, Anna Morandi, Herjan van der Steeg, Stefan Giuliani, Sabine Grasshoff-Derr, Martin Lacher, Ivo de Blaauw, Ekkehart Jenetzky

Source: Frontiers in Pediatrics, Vol 8 (2020)

Subject Terms: anorectal malformation, urinary fistula, colostogram, surgery, ARM-net, multirater agreement, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fped.2020.00571/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/3d85f2a9fb5441599c74234dedf12c60