Show 10 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="Lancelot, Marie-Elise*" or (type exact bookEditor and editor="Lancelot, Marie-Elise*") Add to list Journal Article A1 Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome Kinga M Bujakowska, Qi Zhang, Anna M Siemiatkowska, Qin Liu, Emily Place, Marni J Falk, Mark Consugar, Marie-Elise Lancelot, Aline Antonio, Christine Lonjou, et al. (2015) HUMAN MOLECULAR GENETICS. 24(1). p.230-242 Add to list Journal Article A1 open access Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2 Verena Burtscher, Klaus W Schicker, Elena Novikova, Birgit Pöhn, Thomas Stockner, Christof Kugler, Anamika Singh, Christina Zeitz, Marie-Elise Lancelot, Isabelle Audo, et al. (2014) BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES. 1838(8). p.2053-2065 Add to list Journal Article A1 Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness Christina Zeitz, Samuel G Jacobson, Christian P Hamel, Kinga Bujakowska, Marion Neuillé, Elise Orhan, Xavier Zanlonghi, Marie-Elise Lancelot, Christelle Michiels, Sharon B Schwartz, et al. (2013) AMERICAN JOURNAL OF HUMAN GENETICS. 92(1). p.67-75 Add to list Journal Article A1 Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness Isabelle Audo, Kinga Bujakowska, Elise Orhan, Charlotte M Poloschek, Sabine Defoort-Dhellemmes, Isabelle Drumare, Susanne Kohl, Tien D Luu, Odile Lecompte, Eberhart Zrenner, et al. (2012) AMERICAN JOURNAL OF HUMAN GENETICS. 90(2). p.321-330