Search Results (78)
Click the Why column to see why an item matched the search.
| Match | Type | Why |
|---|
| Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy. | Academic Article |
Why?
|
| Jagannathan, Sujatha | Person |
Why?
|
| Codon, Nonsense | Concept |
Why?
|
| Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial. | Academic Article |
Why?
|
| A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. | Academic Article |
Why?
|
| Suppression of nonsense mutations in cell culture and mice by multimerized suppressor tRNA genes. | Academic Article |
Why?
|
| A Premature Termination Codon Mutation in MYBPC3 Causes Hypertrophic Cardiomyopathy via Chronic Activation of Nonsense-Mediated Decay. | Academic Article |
Why?
|
| A rare case of an isolated PAX6 mutation, aniridia, and Wilms tumor. | Academic Article |
Why?
|
| Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus. | Academic Article |
Why?
|
| Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus. | Academic Article |
Why?
|
| FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. | Academic Article |
Why?
|
| How to get away with nonsense: Mechanisms and consequences of escape from nonsense-mediated RNA decay. | Academic Article |
Why?
|
| SelectRepair Knockout: Efficient PTC-Free Gene Knockout Through Selectable Homology-Directed DNA Repair. | Academic Article |
Why?
|
| Zebrafish model of tuberous sclerosis complex reveals cell-autonomous and non-cell-autonomous functions of mutant tuberin. | Academic Article |
Why?
|
| Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis. | Academic Article |
Why?
|