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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?
Sources of Unease About the Use of Genome Sequencing for Diagnosing Rare Diseases in Children.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?
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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