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Issue Date | Title | Author(s) |
---|---|---|
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. |
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. |
2021 | Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile | NORONHA, Renata M.; VILLARES, Sandra M. F.; TORRES, Natalia; QUEDAS, Elisangela P. S.; HOMMA, Thais Kataoka; ALBUQUERQUE, Edoarda V. A.; MORAES, Michelle B.; FUNARI, Mariana F. A.; BERTOLA, Debora R.; JORGE, Alexander A. L.; MALAQUIAS, Alexsandra C. |
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