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Publications in Medicine

American College of Medical Genetics and Genomics: Revised Scope of Practice and Strategic Plan

Genetics in Medicine

English

A Germline Chromothripsis Event Stably Segregating in 11 Individuals Through Three Generations

Genetics in Medicine

English

A Randomized Trial to Study the Comparative Efficacy of Phenylbutyrate and Benzoate on Nitrogen Excretion and Ureagenesis in Healthy Volunteers

Genetics in Medicine

English

Pitfalls of Trio-Based Exome Sequencing: Imprinted Genes and Parental Mosaicism—MAGEL2 as an Example

Genetics in Medicine

English

Review: Graduated Compression Stockings Reduce Deep Venous Thrombosis in Hospitalized Patients

Annals of Internal Medicine

Internal Medicine

English

Genetic Testing for Inherited Heart Diseases: Longitudinal Impact on Health-Related Quality of Life

Genetics in Medicine

English

A New Complex Allele of the CFTR Gene Partially Explains the Variable Phenotype of the L997F Mutation

Genetics in Medicine

English

Unleashing the Power of Human Genetic Variation Knowledge: New Zealand Stakeholder Perspectives

Genetics in Medicine

English

Measuring the Performance of Markers for Guiding Treatment Decisions

Annals of Internal Medicine

Internal Medicine

English

Differential Diagnosis of Bartter Syndrome, Gitelman Syndrome, and Pseudo–Bartter/Gitelman Syndrome Based on Clinical Characteristics

Genetics in Medicine

English