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pro vyhledávání: '"Stephen eO'Rahilly"'
Autor:
Eleanor eRaffan, Liam A Hurst, Saeed eAl Turki, Gillian eCarpenter, Carol eScott, Allan eDaly, Alison eCoffey, Sanjeev eBhaskar, Eleanor eHoward, Naz eKhan, Helen eKingston, Aarno ePalotie, David Bousfield Savage, Mark eO'Driscoll, Claire eSmith, Stephen eO'Rahilly, Inês eBarroso, Robert Kenneth Semple
Publikováno v:
Frontiers in Endocrinology, Vol 2 (2011)
Genetic diagnosis of inherited metabolic disease is conventionally achieved through syndrome recognition and targeted gene sequencing, but many patients receive no specific diagnosis. Next generation sequencing allied to capture of expressed sequence
Externí odkaz:
https://doaj.org/article/061229dc1d424498986ed6fa52ec7949
