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- 2018
- Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency
- 2016
- An innovative and collaborative partnership between patients with rare disease and industry-supported registries: the Global aHUS Registry
- 2015
- Phenotypic and molecular insights into CASK-related disorders in males
- 47 patients with FLNA associated periventricular nodular heterotopia
- Gene panel sequencing in heritable thoracic aortic disorders and related entities: results of comprehensive testing in a cohort of 264 patients
- Evaluation of the hypothalamic-pituitary-adrenal axis and its relationship with central respiratory dysfunction in children with Prader-Willi syndrome
- 2014
- Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure
- The health and economic burden of haemophilia in Belgium: a rare, expensive and challenging disease
- Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis
- Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics