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="Siemiatkowska, Anna M" or (type any "bookEditor journalEditor issueEditor" and editor="Si... 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 Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa Riza Köksal Özgül, Anna M Siemiatkowska, Didem Yücel, Connie A Myers, Rob WJ Collin, Marijke N Zonneveld, Avigail Beryozkin, Eyal Banin, Carel B Hoyng, L Ingeborgh van den Born, et al. (2011) AMERICAN JOURNAL OF HUMAN GENETICS. 89(2). p.253-264