Omodysplasia: the first reported Brazilian case

by Lílian Maria Albano, Luiz A. N. Oliveira, Débora R. Bertola, Juliana F. Mazzu, Chong Ae Kim
Published 2007-01-01

Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?

by José RM Ceroni, Guilherme L Yamamoto, Rachel S Honjo, Chong A Kim, Maria R Passos-Bueno, Débora R Bertola
Published 2018-02-01

Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

by Christopher M. Grochowski, Ana C. V. Krepischi, Jesper Eisfeldt, Jesper Eisfeldt, Haowei Du, Debora R. Bertola, Debora R. Bertola, Danyllo Oliveira, Silvia S. Costa, James R. Lupski, James R. Lupski, James R. Lupski, James R. Lupski, Anna Lindstrand, Anna Lindstrand, Claudia M. B. Carvalho, Claudia M. B. Carvalho
Published 2021-08-01

Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency

by Beatriz D. S. F. Bonamichi, Stella L. M. Santiago, Débora R. Bertola, Chong A. Kim, Nivaldo Alonso, Berenice B. Mendonca, Tania A. S. S. Bachega, Larissa G. Gomes
Published 2016-10-01

Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients

by Talita Ferreira Marques Aguiar, Talita Ferreira Marques Aguiar, Maria Prates Rivas, Silvia Costa, Mariana Maschietto, Tatiane Rodrigues, Juliana Sobral de Barros, Anne Caroline Barbosa, Renan Valieris, Gustavo R. Fernandes, Debora R. Bertola, Monica Cypriano, Silvia Regina Caminada de Toledo, Angela Major, Israel Tojal, Maria Lúcia de Pinho Apezzato, Dirce Maria Carraro, Carla Rosenberg, Cecilia Maria Lima da Costa, Isabela W. Cunha, Isabela W. Cunha, Stephen Frederick Sarabia, Dolores-López Terrada, Dolores-López Terrada, Dolores-López Terrada, Ana Cristina Victorino Krepischi
Published 2020-05-01