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Paper Details

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.
Orphanet J Rare Dis
11
2017
Author NameAffiliation
Stephanie GrunewaldGreat Ormond Street Hospital for Children NHS Foundation Trust
Hywel J WilliamsUCL Great Ormond Street Institute of Child Health
Maria Bitner-GlindziczUCL Great Ormond Street Institute of Child Health
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Release 1.2