Local de publicação venue para
- Haemophilia A: health and economic burden of a rare disease in Portugal 2019
- Genomic imbalances defining novel intellectual disability associated loci 2019
- Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2 2013
- Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective. 16. 2021