Connection | Profiles RNS

Search Result Details

Back to Search Results

This page shows the details of why an item matched the keywords from your search.

Search Results

SUTTON, VERNON

One or more keywords matched the following items that are connected to SUTTON, VERNON

Item Type	Name
Academic Article	Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children.
Academic Article	Non-random X chromosome inactivation in Aicardi syndrome.
Academic Article	A genome-wide screen for copy number alterations in Aicardi syndrome.
Academic Article	The right to ignore genetic status of late onset genetic disease in the genomic era; Prenatal testing for Huntington disease as a paradigm.
Academic Article	ACMG Policy Statement. Risk categorization for oversight of laboratory-developed tests for inherited conditions.
Academic Article	Facial and physical features of Aicardi syndrome: infants to teenagers.
Concept	Genetic Diseases, Inborn
Concept	Genetic Diseases, X-Linked
Concept	Eye Diseases, Hereditary
Academic Article	Next-generation sequencing for disorders of low and high bone mineral density.
Academic Article	The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Academic Article	Molecular diagnostic experience of whole-exome sequencing in adult patients.
Academic Article	Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
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	Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Academic Article	Insights into genetics, human biology and disease gleaned from family based genomic studies.
Grant	Clinical Phenotype of Imprinted Genes of Chromosome 14
Academic Article	Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Academic Article	Reanalysis of Clinical Exome Sequencing Data.
Academic Article	A Genocentric Approach to Discovery of Mendelian Disorders.

Search Criteria

Genetic Diseases Inborn