Export 3 results:Author Title [ Year]
Filters: Author is Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study [Clear All Filters]
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet 58, 41-47 (2021).
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. Mol Genet Genomic Med 8, e1023 (2020).