Duchenne muscular dystrophy in a developing country: challenges in management and genetic counseling
López-Hernández, L B ; Gómez-Díaz, B ; Escobar-Cedillo, R E ; Gama-Moreno, O ; Camacho-Molina, A ; Soto-Valdés, D M ; Anaya-Segura, M A ; Luna-Padrón, E ; Zúñiga-Guzmán, C ; Lopez-Hernández, J A ; Vázquez-Cárdenas, N A ; Sánchez-Chapul, L ; Rangel-Villalobos, H ; Canto, P ; López-Cardona, M G ; García, S ; Méndez-Covarrubias, G ; Coral-Vázquez, R M
Genetic counseling, 2014-01, Vol.25 (2), p.129
[Periódico revisado por pares]
First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene
Avdjieva-Tzavella, D M ; Ivanova, M B ; Todorov, T P ; Todorova, A P ; Panteleeva, E I ; Tincheva, S S ; Lazarova, E A ; Kathom, H M ; Yaneva, P G ; Tincheva, R S
Genetic counseling, 2014-01, Vol.25 (3), p.271
[Periódico revisado por pares]
The Philadelphia story: the 22q11.2 deletion: report on 250 patients
McDonald-McGinn, D M ; Kirschner, R ; Goldmuntz, E ; Sullivan, K ; Eicher, P ; Gerdes, M ; Moss, E ; Solot, C ; Wang, P ; Jacobs, I ; Handler, S ; Knightly, C ; Heher, K ; Wilson, M ; Ming, J E ; Grace, K ; Driscoll, D ; Pasquariello, P ; Randall, P ; Larossa, D ; Emanuel, B S ; Zackai, E H
Genetic counseling, 1999, Vol.10 (1), p.11
[Periódico revisado por pares]