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Publications in Genetics

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

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

A Read-Through Drug Put Through Its Paces

Molecular Biology

Biological Sciences

English

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

Genetics in Medicine

English

Distinguishing Between Exploratory and Confirmatory Preclinical Research Will Improve Translation

Molecular Biology

Biological Sciences

English

Chromosome Synapsis Alleviates Mek1-Dependent Suppression of Meiotic DNA Repair

Molecular Biology

Biological Sciences

English

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

Genetics in Medicine

English