Browsing by Author Bertola, Debora Romeo

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Showing results 1 to 6 of 6
Issue DateTitleAuthor(s)
1-May-2012Additional Thoughts About Juvenile Hyaline Fibromatosis and Infantile Systemic HyalinosisDenadai, Rafael; Bertola, Debora Romeo; Stelini, Rafael Fantelli; Raposo-Amaral, Cassio Eduardo; Universidade Estadual de Campinas (UNICAMP); Universidade Federal de São Paulo (UNIFESP)
1-Jun-2015Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registriesKelmann, Samantha Vernaschi; D'Angioli Costa Quaio, Caio Robledo; Honjo, Rachel Sayuri; Bertola, Debora Romeo; Rosa Neto, Nilton Salles; Lourenco, Charles Marques; d'Almeida, Vania [UNIFESP]; Lellis, Rute Facchini; Rivitti-Machado, Maria Cecilia; Simoes e Silva Enokihara, Milvia Maria [UNIFESP]; Michalany, Nilceo S. [UNIFESP]; Kim, Chong Ae; Universidade de São Paulo (USP); Hosp Nove de Julho; Universidade Federal de São Paulo (UNIFESP); Hosp Santa Casa de Misericordia São Paulo; Unidade Genet ICr
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
1-Mar-2013Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variantsD'Angelo, Carla Sustek; Kohl, Ilana; Varela, Monica Castro; Emilio de Castro, Claudia Irene; Kim, Chong Ae; Bertola, Debora Romeo; Lourenco, Charles Marques; Alvarez Perez, Ana Beatriz [UNIFESP]; Koiffmann, Celia Priszkulnik; Universidade de São Paulo (USP); Universidade Federal de São Paulo (UNIFESP)
1-Jul-2012Systemic hyalinosis: new terminology, severity grading system, and surgical approachDenadai, Rafael; Bertola, Debora Romeo; Raposo-Amaral, Cassio Eduardo; SOBRAPAR; Universidade Federal de São Paulo (UNIFESP)
1-Jul-2011Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countriesJehee, Fernanda Sarquis; Takamori, Jean Tetsuo; Vasconcelos Medeiros, Paula F.; Pordeus, Ana Carolina B.; Latini, Flavia Roche Moreira [UNIFESP]; Bertola, Debora Romeo; Kim, Chong Ae; Passos-Bueno, Maria Rita; Universidade de São Paulo (USP); Univ Fed Campina Grande; Universidade Federal de São Paulo (UNIFESP); Assoc Beneficente Coleta Sangue