Naila Cristina Vilaça Lourenço

A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case

Claudia Ismania Samogy Costa, Elisa Varella‐Branco, Frederico Monfardini et al. · Journal of Neurodevelopmental Disorders · 2019 · 55 citations · Full text

Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?

Ágatha Cristhina Oliveira Faria, Eliete Rabbi‐Bortolini, Maria R. G. O. Rebouças et al. · American Journal of Medical Genetics Part A · 2015 · 47 citations

Genetics, Pathology, Disease Gene Identification +24

Waardenburg syndrome: Novel mutations in a large Brazilian sample

Magnolia Astrid Pretell Bocángel, Uirá Souto Melo, Leandro Ucela Alves et al. · European Journal of Medical Genetics · 2018 · 38 citations

Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin

Mayana Zatz, Monize Lazar, Guilherme Lopes Yamamoto et al. · Neuromuscular Disorders · 2014 · 35 citations · Full text

A Novel Saliva RT-LAMP Workflow for Rapid Identification of COVID-19 Cases and Restraining Viral Spread

Gerson Shigeru Kobayashi, Luciano Abreu Brito, Danielle de Paula Moreira et al. · Diagnostics · 2021 · 35 citations · Full text