Loading...
Keywords
Last Name
Institution
Back to Search Results

Connection

Search Results to Eric T. Rush

This is a "connection" page, showing the details of why an item matched the keywords from your search.

                     
                     

One or more keywords matched the following items that are connected to Rush, Eric

Item TypeName
Concept Phenotype
Academic Article Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
Academic Article Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Academic Article Osteogenesis imperfecta caused by PPIB mutation with severe phenotype and congenital hearing loss.
Academic Article Echocardiographic phenotype in osteogenesis imperfecta varies with disease severity.
Academic Article Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.
Academic Article Mobility in osteogenesis imperfecta: a multicenter North American study.
Academic Article De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Academic Article A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Academic Article Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease.
Academic Article Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Academic Article A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome.
Academic Article Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia.
Academic Article Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Academic Article Hypophosphatasia?diagnosis: current state of the art and proposed diagnostic criteria for children and adults.

Search Criteria
  • Phenotype