Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions

par Cecília Silva, Nuno Maia, Flávia Santos, Bárbara Rodrigues, Isabel Marques, Rosário Santos, Paula Jorge
Publié 2021

CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in <i>RASGRP2</i>

par Sara Morais, Mónica Pereira, Catarina Lau, Ana Gonçalves, Catarina Monteiro, Marta Gonçalves, Jorge Oliveira, Lurdes Moreira, Eugénia Cruz, Rosário Santos, Margarida Lima
Publié 2021