Alexander Stegmann
Groningen University Medical Centre
88 papers found
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De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
Download from www.nature.comGermline AGO2 mutations impair RNA interference and human neurological development
Download from www.nature.comThe adult phenotype of Schaaf-Yang syndrome
Download from link.springer.comDe novo variants in MPP5 cause global developmental delay and behavioral changes
Download from academic.oup.comAcute encephalopathy after head trauma in a patient with a RHOBTB2 mutation
Download from doi.orgMutations inRPSAandNKX2‐3link development of the spleen and intestinal vasculature
Download from onlinelibrary.wiley.comDe Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies
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