Alexander Stegmann
Groningen University Medical Centre
88 papers found
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De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood
UploadCERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Download from doi.orgMonoallelic CRMP1 gene variants cause neurodevelopmental disorder
Download from doi.orgPathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy
Download from doi.orgThe performance of genome sequencing as a first-tier test for neurodevelopmental disorders
UploadLoss-of-function variants in SRRM2 cause a neurodevelopmental disorder
UploadHuman KCNQ5 de novo mutations underlie epilepsy and intellectual disability
UploadDe novo variants in ATP2B1 lead to neurodevelopmental delay
UploadPIGNencephalopathy: Characterizing the epileptology
UploadSystematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation
Download from doi.orgTibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon
UploadBlount disease and familial inheritance in Ghana, area cross-sectional study
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