Publications
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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).