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SCOTT, DARYL
One or more keywords matched the following items that are connected to SCOTT, DARYL
Item TypeName
Academic Article FBN1 contributing to familial congenital diaphragmatic hernia.
Academic Article De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
Academic Article Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.
Academic Article Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.
Academic Article Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Academic Article Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Concept Exome
Academic Article Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.
Academic Article Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Academic Article Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Academic Article Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.
Academic Article High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
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