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BELMONT, JOHN
One or more keywords matched the following items that are connected to
BELMONT, JOHN
Item Type
Name
Academic Article
Strategic approaches to unraveling genetic causes of cardiovascular diseases.
Academic Article
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
Academic Article
Genetic disorders with both hearing loss and cardiovascular abnormalities.
Academic Article
Heart defects in X-linked heterotaxy: evidence for a genetic interaction of Zic3 with the nodal signaling pathway.
Academic Article
A genomewide single-nucleotide-polymorphism panel for Mexican American admixture mapping.
Concept
Genetic Diseases, Inborn
Concept
Genetic Diseases, X-Linked
Concept
Eye Diseases, Hereditary
Academic Article
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
Academic Article
Clinical bioinformatics: emergence of a new laboratory discipline.
Academic Article
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
Academic Article
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Academic Article
Lessons learned from additional research analyses of unsolved clinical exome cases.
Academic Article
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Academic Article
Correction: Estimating the burden and economic impact of pediatric genetic disease.
Academic Article
Estimating the burden and economic impact of pediatric genetic disease.
Academic Article
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Academic Article
Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.
Academic Article
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
Academic Article
The diagnostic trajectory of infants and children with clinical features of genetic disease.
Academic Article
Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases.
Academic Article
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders.
Academic Article
Development of a comprehensive cardiovascular disease genetic risk assessment test.
Academic Article
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Search Criteria
Genetic Diseases Inborn