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Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics.Academic Article Why?
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.Academic Article Why?
Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients.Academic Article Why?
Sources of Unease About the Use of Genome Sequencing for Diagnosing Rare Diseases in Children.Academic Article Why?
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.Academic Article Why?
Congenital H-type tracheoesophageal fistula: A multicenter review of outcomes in a rare disease.Academic Article Why?
Rare DiseasesConcept Why?
Reverse Translation in Advancing Pharmacotherapy in Pediatric Rheumatology: A Logical Approach in Rare Diseases with Limited Resources.Academic Article Why?
Cohen, AnaPerson Why?
Younger, ScottPerson Why?
Vivian, JayPerson Why?
Smail, CraigPerson Why?
Gannon, JenniferPerson Why?
Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing.Academic Article Why?
Dangerous and expensive screening and treatment for rare childhood diseases: the case of Krabbe disease.Academic Article Why?
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