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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. |
2018 | Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause | HOMMA, Thais K.; KREPISCHI, Ana C. V.; FURUYA, Tatiane K.; HONJO, Rachel S.; MALAQUIAS, Alexsandra C.; BERTOLA, Debora R.; COSTA, Silvia S.; CANTON, Ana P.; ROELA, Rosimeire A.; FREIRE, Bruna L.; KIM, Chong A.; ROSENBERG, Carla; JORGE, Alexander A. L. |
2020 | The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort | FERNANDES, A. M.; ROCHA-BRAZ, M. G. M.; FRANCA, M. M.; LERARIO, A. M.; SIMOES, V. R. F.; ZANARDO, E. A.; KULIKOWSKI, L. D.; MARTIN, R. M.; MENDONCA, B. B.; FERRAZ-DE-SOUZA, B. |
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 | Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature | HOMMA, Thais K.; FREIRE, Bruna L.; HONJO, Rachel; DAUBER, Andrew; FUNARI, Mariana F. A.; LERARIO, Antonio M.; ALBUQUERQUE, Edoarda V. A.; VASQUES, Gabriela A.; BERTOLA, Debora R.; KIM, Chong A.; MALAQUIAS, Alexsandra C.; JORGE, Alexander A. L. |
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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