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Issue Date | Title | Author(s) |
---|---|---|
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 | Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway | MALAQUIAS, Alexsandra C.; BRASIL, Amanda S.; PEREIRA, Alexandre C.; ARNHOLD, Ivo J. P.; MENDONCA, Berenice B.; BERTOLA, Debora R.; JORGE, Alexander A. L. |
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. |
2014 | Further Evidence of the Importance of RIT1 in Noonan Syndrome | BERTOLA, Debora R.; YAMAMOTO, Guilherme L.; ALMEIDA, Tatiana F.; BUSCARILLI, Michelle; JORGE, Alexander A. L.; MALAQUIAS, Alexsandra C.; KIM, Chong A.; TAKAHASHI, Vanessa N. V.; PASSOS-BUENO, Maria Rita; PEREIRA, Alexandre C. |
2015 | Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome | YAMAMOTO, Guilherme Lopes; AGUENA, Meire; GOS, Monika; HUNG, Christina; PILCH, Jacek; FAHIMINIYA, Somayyeh; ABRAMOWICZ, Anna; CRISTIAN, Ingrid; BUSCARILLI, Michelle; NASLAVSKY, Michel Satya; MALAQUIAS, Alexsandra C.; ZATZ, Mayana; BODAMER, Olaf; MAJEWSKI, Jacek; JORGE, Alexander A. L.; PEREIRA, Alexandre C.; KIM, Chong Ae; PASSOS-BUENO, Maria Rita; BERTOLA, Debora Romeo |
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. |
2013 | Tegumentary manifestations of Noonan and Noonan-related syndromes | QUAIO, Caio Robledo D'Angioli Costa; ALMEIDA, Tatiana Ferreira de; BRASIL, Amanda Salem; PEREIRA, Alexandre C.; JORGE, Alexander A. L.; MALAQUIAS, Alexsandra C.; KIM, Chong Ae; BERTOLA, Debora Romeo |
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