Omodysplasia: the first reported Brazilian case by Lílian Maria Albano, Luiz A. N. Oliveira, Débora R. Bertola, Juliana F. Mazzu, Chong Ae Kim

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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

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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

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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

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Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil by Ana C. V. Krepischi, Darine Villela, Silvia Souza da Costa, Patricia C. Mazzonetto, Juliana Schauren, Michele P. Migliavacca, Fernanda Milanezi, Juliana G. Santos, Gustavo Guida, Rodrigo Guarischi-Sousa, Gustavo Campana, Fernando Kok, David Schlesinger, Joao Paulo Kitajima, Francine Campagnari, Debora R. Bertola, Angela M. Vianna-Morgante, Peter L. Pearson, Carla Rosenberg

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Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability by Ruizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, Hatice Koçak Eker, Silvia R. Costa, Yavuz Sahin, Zeynep Ocak, Sedat Isikay, Ozge Ozalp, Sevcan Bozdogan, Huseyin Aslan, Nursel Elcioglu, Débora R. Bertola, Alper Gezdirici, Haowei Du, Jawid M. Fatih, Christopher M. Grochowski, Gulsen Akay, Shalini N. Jhangiani, Ender Karaca, Shen Gu, Zeynep Coban-Akdemir, Jennifer E. Posey, Yavuz Bayram, V. Reid Sutton, Claudia M.B. Carvalho, Davut Pehlivan, Richard A. Gibbs, James R. Lupski

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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

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