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An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)
Quinn P. Stein
, Cate Walsh Vockley
, Mathew J. Edick
, Shaohui Zhai
, Sally J. Hiner
, Rebecca S. Loman
, Laura Davis-Keppen
, Taylor A. Zuck
, Cynthia A. Cameron
,
Susan A. Berry
, For The Inborn Errors Of Metabolism Collaborative
Pediatric Genetics & Metabolism
Research output
:
Contribution to journal
›
Article
›
peer-review
4
Scopus citations
Overview
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Dive into the research topics of 'An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)'. Together they form a unique fingerprint.
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Keyphrases
Clinical Presentation
20%
Consanguinity
100%
Data Query
20%
Data to Enhance
20%
Diagnostic Assessment
20%
DNA Testing
20%
Fatty Acid Oxidation Disorders
40%
Genetic Counseling
100%
Genetic Counselors
40%
Genetic Test
100%
Genetic Testing
60%
Genotype
20%
High Utilization
20%
Hospitalization
20%
Inborn Errors of Metabolism
100%
Metabolic Conditions
60%
Molecular Diagnostics
20%
Newborn Screening
20%
Test Utilization
100%
Biochemistry, Genetics and Molecular Biology
Beta Oxidation
40%
Consanguinity
100%
Genetic Counseling
100%
Genetic Screening
60%
Genetic Test
100%
Genetics
40%
Genotyping
20%
Inborn Error of Metabolism
100%
Newborn Screening
20%
Medicine and Dentistry
Clinician
20%
Consanguinity
100%
Disease
40%
Fatty Acid Oxidation
40%
Genetic Counseling
100%
Genetic Screening
60%
Inborn Error of Metabolism
100%
Newborn Screening
20%