Show
Sort by
-
- Journal Article
- A1
- open access
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
-
- Journal Article
- A1
- open access
Primary brain calcification : an international study reporting novel variants and associated phenotypes
-
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
-
Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review
-
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome