Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND)

Source
Genetics in medicine - ISSN 1098-3600-28:10 (2026) p.
Author(s)
    Sally Nijim, Mimi Kim, Melissa Denish, Michael V. Gonzalez, Joseph Zinski, Claudine Rieubland, Dominique Braun, Elsebet Ostergaard, Amelle Shillington, Laurence Faivre, Julien Maraval, Aurore Garde, Christophe Philippe, Frederic Tran-Mau-Them, Amy Crunk, Megan Hawley, Bert Callewaert, Maria Iascone, Anna Cereda, Cecilia Daolio, Tova Hershkovitz, Jean-Marc Good, Katharina Steindl, Tanja Frey, Anita Rauch, Alexandra Afenjar, Cyril Mignot, Jean-Madeleine de Sainte Agathe, Nicolette den Hollander, Yvonne Hilhorst-Hofstee, Saskia Koene, Gijs Santen, Emilia K. Bijlsma, Sara Berger, Lakshmi Mehta, Radka Stoeva, Clara Houdayer, Paul Gueguen, Helene Faust, Sabine Specht, Annick Klabunde-Cherwon, Melik Malek Khelifa, Anke Bergmann, Carol Saunders, Magdalena Krygier, Diana Carrasco, Kay Metcalfe, Stephan J. Sanders, Gert Van Goethem, David C. Fajgenbaum

Disturbed brain ether lipid metabolism and histology inSjogren-Larssonsyndrome

Source
Journal of inherited metabolic disease - ISSN 0141-8955- () p. 1-14
Author(s)
    Pippa Staps, William B. Rizzo, Frederic M. Vaz, Marianna Bugiani, Martin Giera, Bram Heijs, Antoine H. C. van Kampen, Mia L. Pras-Raves, Marjolein Breur, Annemieke Groen, Sacha Ferdinandusse, Marinette van der Graaf, Gert Van Goethem, Martin Lammens, Ron A. Wevers, Michel A. A. P. Willemsen

De BPSD-DS evaluatieschaal voor dementiegerelateerde gedragsveranderingen bij mensen met downsyndroom

Source
Tijdschrift voor gerontologie en geriatrie - ISSN 0167-9228-49:5 (2018) p. 187-205
Author(s)