6 papers found
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: a survey to evaluate relevant endpoints for future clinical trialsUpload
Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutationsUpload
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromeUpload
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to lightUpload
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive testsUpload
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testingUpload
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