Rank | Title | Journal | Year | PubWeight™‹?› |
---|---|---|---|---|
1 | A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. | Am J Med Genet A | 2015 | 1.60 |
2 | Cochlear implantation is safe and effective in patients with MYH9-related disease. | Orphanet J Rare Dis | 2014 | 0.82 |