In Silico Structural and Biochemical Functional Analysis of a Novel <i>CYP21A2</i> Pathogenic Variant

by Michal Cohen, Emanuele Pignatti, Monica Dines, Adi Mory, Nina Ekhilevitch, Rachel Kolodny, Christa E. Flück, Dov Tiosano
Published 2020-08-01

Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes

by Dov Tiosano, Laura Audi, Sharlee Climer, Weixiong Zhang, Alan R. Templeton, Monica Fernández-Cancio, Ruth Gershoni-Baruch, José Miguel Sánchez-Muro, Mohamed El Kholy, Zèev Hochberg
Published 2016-05-01

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

by Dov Tiosano, Hagit N Baris, Anlu Chen, Marrit M Hitzert, Markus Schueler, Federico Gulluni, Antje Wiesener, Antonio Bergua, Adi Mory, Brett Copeland, Joseph G Gleeson, Patrick Rump, Hester van Meer, Deborah A Sival, Volker Haucke, Josh Kriwinsky, Karl X Knaup, André Reis, Nadine N Hauer, Emilio Hirsch, Ronald Roepman, Rolph Pfundt, Christian T Thiel, Michael S Wiesener, Mariam G Aslanyan, David A Buchner
Published 2019-04-01