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- 2013
- Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations
- Analysis of the novel Fanconi Anemia gene SLX4/FANCP in familial breast cancer cases
- A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats
- Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa
- 2012
- Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
- Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder
- Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions
- 2011
- New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations
- High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations
- Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response