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- 2015
- Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion
- 2014
- De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation
- Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy
- A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma
- Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
- Identity-by-descent guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy
- Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics
- Structural and numerical changes of chromosome X in patients with esophageal atresia
- 2013
- The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
- Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations