1. Further evidence of the importance of RIT1 in Noonan syndrome. Issue 11 (13th August 2014) Authors: Bertola, Débora 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. Journal: American journal of medical genetics Issue: Volume 164:Issue 11(2014.) Page Start: 2952 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp. Issue 5 (3rd April 2017) Authors: Bertola, Débora; Buscarilli, Michelle; Stabley, Deborah L.; Baker, Laura; Doyle, Daniel; Bartholomew, Dennis W.; Sol‐Church, Katia; Gripp, Karen W. Journal: American journal of medical genetics Issue: Volume 173:Issue 5(2017) Page Start: 1309 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. Issue 6 (20th March 2015) Authors: 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, Alex... Journal: Journal of medical genetics Issue: Volume 52:Issue 6(2015) Page Start: 413 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan‐like syndrome individual: Broadening the clinical phenotype. Issue 3 (17th February 2017) Authors: Bertola, Débora; Yamamoto, Guilherme; Buscarilli, Michelle; Jorge, Alexander; Passos‐Bueno, Maria Rita; Kim, Chong Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 824 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan‐like syndrome individual: Broadening the clinical phenotype. Issue 3 (March 2017) Authors: Bertola, Débora; Yamamoto, Guilherme; Buscarilli, Michelle; Jorge, Alexander; Passos‐Bueno, Maria Rita; Kim, Chong Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 824 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗