Show 20 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author="Nava, Caroline" or (type exact bookEditor and editor="Nava, Caroline") Add to list Journal Article A1 Lessons learned from 40 novel PIGA patients and a review of the literature Allan Bayat, Alexej Knaus, Manuela Pendziwiat, Alexandra Afenjar, Tahsin Stefan Barakat, Friedrich Bosch, Bert Callewaert (UGent) , Patrick Calvas, Berten Ceulemans, Nicolas Chassaing, et al. (2020) EPILEPSIA. 61(6). p.1142-1155 Add to list Journal Article A1 De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism Illja J Diets, Roos van der Donk, Kristina Baltrunaite, Esmé Waanders, Margot RF Reijnders, Alexander JM Dingemans, Rolph Pfundt, Anneke T Vulto-van Silfhout, Laurens Wiel, Christian Gilissen, et al. (2019) AMERICAN JOURNAL OF HUMAN GENETICS. 104(4). p.758-766 Add to list Journal Article A1 IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients Cyril Mignot, Aoife C McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie-Line Jacquemont, Marilyn Tallot, Mathieu Milh, et al. (2018) GENETICS IN MEDICINE. 21(4). p.837-849 Add to list Journal Article A1 Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders Markus Wolff, Katrine M Johannesen, Ulrike BS Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, et al. (2017) BRAIN. 140(5). p.1316-1336