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2. A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets. Issue 1 (25th March 2019)

4. Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension. (February 2021)

9. MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases. Issue 17 (24th August 2021)

10. Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants. Issue 1 (15th October 2019)