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6. Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies. (30th March 2021)

9. Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia. (2nd January 2015)

10. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. (26th January 2016)