4 papers found
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital networkUpload
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunctionUpload
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromeUpload
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to lightUpload
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