| Title : A late-onset congenital myasthenic syndrome due to a heterozygous DOK7 mutation - Bastos_2020_Neuromuscul.Disord__ |
| Author(s) : Bastos P , Barbosa R , Fernandes M , Alonso I |
| Ref : Neuromuscular Disorders , : , 2020 |
| PubMedID: 32360404 |
| Title : Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism - Santos-Silva_2019_J.Pediatr.Endocrinol.Metab_32_1265 |
| Author(s) : Santos-Silva R , Rosario M , Grangeia A , Costa C , Castro-Correia C , Alonso I , Leao M , Fontoura M |
| Ref : J Pediatr Endocrinol Metab , 32 :1265 , 2019 |
| PubMedID: 31430255 |