Pernille Axel Gregersen
0000-0003-3424-0590
5 papers found
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National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark
Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures
Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes
A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley–Kendall dysplasia are allelic disorders
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