Show
Sort by
-
- Journal Article
- A1
- open access
A recurrent germline mutation in the 5’UTR of the androgen receptor causes complete androgen insensitivity by activating aberrant uORF translation
-
Improving health related quality of life and independence in community dwelling frail older adults through a client-centred and activity-oriented program : a pragmatic randomized controlled trial
-
Clinical utility gene card for: hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches
-
- Journal Article
- A1
- open access
Methyl-CpG-binding domain sequencing reveals a prognostic methylation signature in neuroblastoma
-
- Journal Article
- A1
- open access
A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect
-
STXBP1 encephalopathy : a neurodevelopmental disorder including epilepsy
-
- Journal Article
- A1
- open access
ClinGen : the clinical genome resource
-
Pediatric IBD-unclassified is less common than previously reported : results of an 8-year audit of the EUROKIDS registry
-
Genetics of the Ehlers-Danlos syndrome: more than collagen disorders
-
- Journal Article
- A1
- open access
Clinical significance of plasmacytoid dendritic cells and myeloid-derived suppressor cells in melanoma