Einträge von Stouffs, Katrien auf dem Publikationsserver

Brock, Stefanie , Laquerriere, Annie, Marguet, Florent, Myers, Scott J, Hongjie, Yuan, Baralle, Diana, Vanderhasselt, Tim, Stouffs, Katrien, Keymolen, Kathelijn, Kim, Sukhan, Allen, James , Shaulsky, Gil , Chelly, Jamel, Marcorelle, Pascale, Aziza, Jacqueline, Villard, Laurent , Sacaze, Elise, de Wit, Marie C Y, Wilke, Martina, Mancini, Grazia Maria Simonetta, Hehr, Ute, Lim, Derek, Mansour, Sahar, Traynelis, Stephen F, Beneteau, Claire, Denis-Musquer, Marie, Jansen, Anna C, Fry, Andrew E und Bahi-Buisson, Nadia (2022) Overlapping cortical malformations in patients with pathogenic variants inGRIN1andGRIN2B. Journal of Medical Genetics 60 (2), S. 183-192. Volltext nicht vorhanden.

Brock, Stefanie , Vanderhasselt, Tim , Vermaning, Sietske, Keymolen, Kathelijn , Régal, Luc , Romaniello, Romina , Wieczorek, Dagmar , Storm, Tim Matthias, Schaeferhoff, Karin, Hehr, Ute, Kuechler, Alma, Krägeloh-Mann, Ingeborg, Haack, Tobias B., Kasteleijn, Esmee, Schot, Rachel, Mancini, Grazia Maria Simonetta, Webster, Richard, Mohammad, Shekeeb , Leventer, Richard J., Mirzaa, Ghayda, Dobyns, William B. , Bahi-Buisson, Nadia, Meuwissen, Marije, Jansen, Anna C. und Stouffs, Katrien (2020) Defining the phenotypical spectrum associated with variants in TUBB2A. Journal of Medical Genetics 58 (1), S. 33-40. Volltext nicht vorhanden.

Oegema, Renske , Barakat, Tahsin Stefan , Wilke, Martina, Stouffs, Katrien , Amrom, Dina, Aronica, Eleonora, Bahi-Buisson, Nadia, Conti, Valerio , Fry, Andrew E. , Geis, Tobias, Andres, David Gomez, Parrini, Elena, Pogledic, Ivana , Said, Edith, Soler, Doriette, Valor, Luis M., Zaki, Maha S. , Mirzaa, Ghayda, Dobyns, William B., Reiner, Orly, Guerrini, Renzo , Pilz, Daniela T., Hehr, Ute, Leventer, Richard J., Jansen, Anna C. , Mancini, Grazia M. S. und Di Donato, Nataliya (2020) International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nature Reviews Neurology 16 (11), S. 618-635. Volltext nicht vorhanden.