Show 50 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: keyword exact "protein" cql: author exact 801000365425 or (type exact bookEditor and editor exact 801000365425) 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 Add to list Journal Article A1 Prevalence of AIPL1 mutations in inherited retinal degenerative disease Melanie M Sohocki, Isabelle Perrault, Bart Leroy (UGent) , Annette M Payne, Sharola Dharmaraj, Shomi S Bhattacharya, Josseline Kaplan, Irene H Maumenee, Robert Koenekoop, Françoise Meire (UGent) , et al. (2000) MOLECULAR GENETICS AND METABOLISM. 70(2). p.142-150