Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investiga...

por Correia-Costa, Gabriela Roldão, Sgardioli, Ilária Cristina, dos Santos, Ana Paula, de Araujo, Tânia Kawasaki, Secolin, Rodrigo, Lopes-Cendes, Iscia, Gil-da-Silva-Lopes, Vera Lúcia, Vieira, Társis Paiva
Publicado 2022

Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review

por Correia-Costa, Gabriela Roldão, dos Santos, Ana Mondadori, de Leeuw, Nicole, Rigatto, Sumara Zuanazi Pinto, Belangero, Vera Maria Santoro, Steiner, Carlos Eduardo, Gil-da-Silva-Lopes, Vera Lúcia, Vieira, Társis Paiva
Publicado 2022