Show
Sort by
-
Insufficient evidence for a role of SERPINF1 in otosclerosis
-
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis
-
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability
-
- Journal Article
- A1
- open access
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections
-
- Journal Article
- A1
- open access
Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with anemia
-
DNA diagnostics of hereditary hearing loss : a targeted resequencing approach combined with a mutation classification system
-
Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing
-
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
-
Mutation of the iron-sulfur cluster assembly IBA57 gene causes lethal myopathy and encephalopathy
-
- Journal Article
- A1
- open access
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome