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- 2015
- Altered cytoskeletal organization characterized lethal but not surviving Brtl(+/-) mice: insight on phenotypic variability in osteogenesis imperfecta
- An ER-directed gelsolin nanobody targets the first step in amyloid formation in a gelsolin amyloidosis mouse model
- Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
- Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin
- Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects
- Integrative pathway genomics of lung function and airflow obstruction
- 2014
- The deubiquitinase USP15 antagonizes Parkin-mediated mitochondrial ubiquitination and mitophagy
- Abnormal retinal development associated with FRMD7 mutations
- 2013
- Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies
- GATA3 antagonizes cancer progression in PTEN-deficient prostates