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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?
Congenital H-type tracheoesophageal fistula: A multicenter review of outcomes in a rare disease.Academic Article Why?
Sources of Unease About the Use of Genome Sequencing for Diagnosing Rare Diseases in Children.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?
Vivian, JayPerson Why?
Cohen, AnaPerson Why?
Smail, CraigPerson Why?
Younger, ScottPerson 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?
Gannon, JenniferPerson Why?
Platforms for the identification and validation of candidate small molecule treatments for TBCK syndromeGrant Why?
Sharma, MuktaPerson Why?
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