1. Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment. Issue 8 (11th July 2019) Authors: Ramos, Luiza L. P.; Monteiro, Fabiola P.; Sampaio, Leticia P. B.; Costa, Larissa A.; Ribeiro, Mara D. O.; Freitas, Erika L.; Kitajima, Joao P.; Kok, Fernando Journal: Clinical case reports Issue: Volume 7:Issue 8(2019) Page Start: 1582 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Non‐overlapping 22q11.2 microdeletions in patients with oculo‐auriculo‐vertebral spectrum. Issue 2 (5th December 2013) Authors: dos Santos, Pollyanna Almeida Costa; de Oliveira, Silviene Fabiana; Freitas, Erika L.; Safatle, Heloisa Pires Neto; Rosenberg, Carla; Ferrari, Iris; Mazzeu, Juliana Forte Journal: American journal of medical genetics Issue: Volume 164:Issue 2(2014.) Page Start: 551 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family. (September 2015) Authors: Dantas, Vitor G.L.; Freitas, Erika L.; Della-Rosa, Valter A.; Lezirovitz, Karina; de Moraes, Ana Maria S.M.; Ramos, Silvia B.; Oiticica, Jeanne; Alves, Leandro U.; Pearson, Peter L.; Rosenberg, Carla; Mingroni-Netto, Regina C. Journal: International journal of audiology Issue: Volume 54:Number 9(2015:Sep.) Page Start: 593 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗