Associated Papers
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.
Lucca C et al.
Clinical Genetics, 2025
40274276 (PubMed )
Supplement: CGE-108-412-s001.pdf
Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations.
Coll MJ et al.
Journal of Inherited Metabolic Disease, 2001
Select a paper to view details