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- 2018
- COPD GWAS variant at 19q13.2 in relation with DNA methylation and gene expression
- 2017
- AAV9 delivered bispecific nanobody attenuates amyloid burden in the gelsolin amyloidosis mouse model
- P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye
- The Prader-Willi syndrome proteins MAGEL2 and necdin regulate leptin receptor cell surface abundance through ubiquitination pathways
- 2015
- Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects
- Integrative pathway genomics of lung function and airflow obstruction
- An ER-directed gelsolin nanobody targets the first step in amyloid formation in a gelsolin amyloidosis mouse model
- Altered cytoskeletal organization characterized lethal but not surviving Brtl(+/-) mice: insight on phenotypic variability in osteogenesis imperfecta
- 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