Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency

by Sara Domingues, Lara Isidoro, Dalila Rocha, Jorge Sales Marques
Published 2014-01-01

Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene

by Catarina Dias, Lara Isidoro, Mafalda Santos, Helena Santos, Jorge Sales Marques
Published 2013-01-01

Hipertiroidismo: Experiência de uma Consulta de Endocrinologia Pediátrica

by Sara Domingues, Lara Isidoro, Ana Luísa Leite, Andreia Teles, Jorge Sales Marques, Rosa Arménia Campos
Published 2016-06-01

A síndrome de Smith-Lemli-Opitz: características fenotípicas e genotípicas dos doentes portugueses

by Maria Luís Cardoso, Anabela Bandeira, Altina Lopes, Márcia Rodrigues, Margarida Venâncio, Jorge Sales Marques, Patrícia Janeiro, Inês Ferreira, Dulce Quelhas, Silvia Sequeira, Gabriela Soares, Teresa Lourenço, Rosário Rodrigues, Ana Gaspar, Luís Nunes, Franklim Marques, Esmeralda Martins
Published 2012-08-01