Christina Ringmann Fagerberg
University of Southern Denmark
71 papers found
Refreshing results…
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Download from doi.orgGenotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring
Download from doi.orgExpanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder
UploadIntegrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Download from www.nature.comZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
Download from onlinelibrary.wiley.comTotal number of reads affects the accuracy of fetal fraction estimates in NIPT
Download from doi.orgRare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
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