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Issue DateTitleAuthor(s)
1-May-2014Mutations in the Human UBR1 Gene and the Associated Phenotypic SpectrumSukalo, Maja; Fiedler, Ariane; Guzman, Celina; Spranger, Stephanie; Addor, Marie-Claude; Mcheik, Jiad N.; Benavent, Manuel Oltra; Cobben, Jan M.; Gillis, Lynette A.; Shealy, Amy G.; Deshpande, Charu; Bozorgmehr, Bita; Everman, David B.; Stattin, Eva-Lena; Liebelt, Jan; Keller, Klaus-Michael; Bertola, Debora Romeo; van Karnebeek, Clara D. M.; Bergmann, Carsten; Liu, Zhifeng; Dueker, Gesche; Rezaei, Nima; Alkuraya, Fowzan S.; Ogur, Gonul; Alrajoudi, Abdullah; Venegas-Vega, Carlos A.; Verbeek, Nienke E.; Richmond, Erick J.; Kirbiyik, Ozgur; Ranganath, Prajnya; Singh, Ankur; Godbole, Koumudi; Ali, Fouad A. M.; Alves, Cresio; Mayerle, Julia; Lerch, Markus M.; Witt, Heiko; Zenker, Martin; Univ Hosp Magdeburg; Univ Hosp Erlangen; Hosp Nacl Ninos Dr Carlos Saenz Herrera; Klinikum Bremen Mitte; CHU Vaudois; Univ Hosp; Hosp La Fe; AMC Univ Hosp; Vanderbilt Univ; Cleveland Clin; Guys Hosp; Kariminejad Najmabadi Pathol & Genet Ctr; Greenwood Genet Ctr; Umea Univ; Womens & Childrens Hosp; Stiftung Deutsch Klin Diagnost GmbH; Universidade Federal de São Paulo (UNIFESP); Univ British Columbia; Ctr Human Genet; Nanjing Med Univ; Univ Klinikum Bonn; Univ Tehran Med Sci; King Faisal Specialist Hosp & Res Ctr; Ondokuz Mayis Univ; Al Thawra Teaching Hosp; Hosp Gen Mexico City; Univ Med Ctr Utrecht; Natl Childrens Hosp; Sisli Etfal Res Hosp; Nizams Inst Med Sci; Maulana Azad Med Coll; Deenanath Mangeshkar Hosp & Res Ctr; Minist Hlth; Universidade Federal da Bahia (UFBA); Ernst Moritz Arndt Univ Greifswald; Tech Univ Munich