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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 Mutation
Concept Frameshift Mutation
Concept Mutation, Missense
Academic Article Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant.
Academic Article Genetically Targeted Dipeptidyl Peptidase-4 Inhibitor Use in a Patient with a Novel Mutation of MODY type 4.
Academic Article Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.
Academic Article Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia.
Academic Article Osteogenesis imperfecta caused by PPIB mutation with severe phenotype and congenital hearing loss.
Academic Article Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.
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 Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling.
Academic Article Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease.
Academic Article Identification of an X-linked deletion syndrome through comparative genomic hybridization microarray.
Academic Article Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia.
Academic Article The Global ALPL gene variant classification project: Dedicated to deciphering variants.
Academic Article Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group.
Academic Article The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance.
Academic Article Hypophosphatasia?diagnosis: current state of the art and proposed diagnostic criteria for children and adults.

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