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| Issue Date | Title | Author(s) |
|---|---|---|
| 2019 | Targeted sequencing identifies novel variants in common and rare MODY genes | SANTANA, Lucas S. de; CAETANO, Lilian A.; COSTA-RIQUETTO, Aline D.; FRANCO, Pedro C.; DOTTO, Renata P.; REIS, Andre F.; WEINERT, Leticia S.; SILVEIRO, Sandra P.; VENDRAMINI, Marcio F.; PRADO, Flaviene A. do; ABRAHAO, Giovanna C. P.; ALMEIDA, Ana Gregoria F. P. de; TAVARES, Maria da G. Rodrigues; GONCALVES, Wagner Rodrigo B.; SANTOMAURO JUNIOR, Augusto C.; HALPERN, Bruno; JORGE, Alexander A. L.; NERY, Marcia; TELES, Milena G. |
| 2012 | Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies | QUAIO, Caio R. D. C.; CARVALHO, Jozelio F.; SILVA, Clovis A. da; BUENO, Cleonice; BRASIL, Amanda S.; PEREIRA, Alexandre C.; JORGE, Alexander A. L.; MALAQUIAS, Alexsandra C.; KIM, Chong A.; BERTOLA, Debora R. |
| 2012 | KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis | BRASIL, Amanda S.; MALAQUIAS, Alexsandra C.; KIM, Chong A.; KRIEGER, Jose Eduardo; JORGE, Alexander A. L.; PEREIRA, Alexandre C.; BERTOLA, Debora R. |
| 2016 | Nutritional Aspects of Noonan Syndrome and Noonan-Related Disorders | SILVA, Fernanda Marchetto da; JORGE, Alexander Augusto; MALAQUIAS, Alexandra; PEREIRA, Alexandre da Costa; YAMAMOTO, Guilherme Lopes; KIM, Chong Ae; BERTOLA, Debora |
| 2020 | Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil | BERTOLA, Debora R.; CASTRO, Matheus A. A.; YAMAMOTO, Guilherme L.; HONJO, Rachel S.; CERONI, Jose Ricardo; BUSCARILLI, Michele M.; FREITAS, Amanda B.; MALAQUIAS, Alexsandra C.; PEREIRA, Alexandre C.; JORGE, Alexander A. L.; PASSOS-BUENO, Maria Rita; KIM, Chong A. |
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