A novel missense mutation in the alphatropomyosin (TPM1) gene in a family affected with hypertrophic cardiomyopathy

by Vieira,Emília, Oliveira,Márcia E, Tkachenko,Nataliya, Alvares,Sílvia, Machado,José Carlos, Fortuna,Ana Maria, Santos,Rosário
Published 2016

Síndrome de Potocki-Lupski: microduplicação 17P11.2 e anomalias cardíacas

by Lopes,Elisa, Pires,Sílvia, Candeias,Cristina, Oliva-Teles,Natália, Freitas,Manuela Mota, Tkachenko,Nataliya, Soares,Gabriela, Loureiro,Marília, Silva,M Fonseca
Published 2016