Leiden University Scholarly Publications

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(1 - 11 of 11)
Clinical symptoms, laboratory parameters, and long-term follow-up in a national DADA2 cohort
FAIR genomes metadata schema promoting next generation sequencing data reuse in Dutch healthcare and research
Implementation of early next-generation sequencing for inborn errors of immunity
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Parents' perspectives and societal acceptance of implementation of newborn screening for SCID in the Netherlands
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations
Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies
Recurrence and Variability of Germline EPCAM Deletions in Lynch Syndrome
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study