Cold Spring Harbor Molecular Case Studies
Cold Spring Harbor Laboratory Press · United States · Est. 2015
Aims & Scope✦ Inferred from recent articles
This journal publishes case studies focusing on the molecular and genetic underpinnings of human diseases. It details the diagnostic journeys, clinical presentations, and treatment responses for a variety of conditions, including rare genetic disorders, metabolic diseases, hematolymphoid neoplasms, and various cancers. The studies often involve advanced genetic testing, such as exome sequencing, whole-genome sequencing, and targeted gene panels, to identify novel variants, understand disease pathogenesis, and inform precision medicine approaches.
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