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7. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Pena LDM; Jiang YH; Schoch K; Spillmann RC; Walley N; Stong N; Rapisardo Horn S; Sullivan JA; McConkie-Rosell A; Kansagra S; Smith EC; El-Dairi M; Bellet J; Keels MA; Jasien J; Kranz PG; Noel R; Nagaraj SK; Lark RK; Wechsler DSG; Del Gaudio D; Leung ML; Hendon LG; Parker CC; Jones KL; ; Goldstein DB; Shashi V Genet Med; 2018 Apr; 20(4):464-469. PubMed ID: 28914269 [TBL] [Abstract][Full Text] [Related]
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