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SABO, ANIKO
One or more keywords matched the following items that are connected to SABO, ANIKO
Item TypeName
Academic Article Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Academic Article Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.
Academic Article A framework for the interpretation of de novo mutation in human disease.
Academic Article Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia.
Academic Article Synaptic, transcriptional and chromatin genes disrupted in autism.
Academic Article Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children.
Academic Article Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.
Academic Article Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition.
Concept Exome
Academic Article Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Academic Article A Genocentric Approach to Discovery of Mendelian Disorders.
Academic Article Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.
Academic Article Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.
Academic Article Exome variant discrepancies due to reference-genome differences.
Academic Article Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.
Academic Article Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.
Academic Article Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.
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  • Exome