Rikke Møller
University of Southern Denmark
14 papers found
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DNA methylation signature classification of rare disorders using publicly available methylation data
Download from onlinelibrary.wiley.comBiallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
UploadNatural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
UploadPIGNencephalopathy: Characterizing the epileptology
UploadRefining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders
Download from doi.orgGenotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants
Download from doi.orgThe Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood
Download from doi.orgLessons learned from 40 novel PIGA patients and a review of the literature
Download from api.wiley.comNovel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function
Download from academic.oup.comBiological concepts in human sodium channel epilepsies and their relevance in clinical practice
Download from onlinelibrary.wiley.comDefining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
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