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Search Results to Eric T. Rush

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

Item TypeName
Concept Bone Diseases
Concept Bone Diseases, Metabolic
Concept Cardiovascular Diseases
Concept Corneal Diseases
Concept Genetic Predisposition to Disease
Concept Neurocutaneous Syndromes
Concept Rare Diseases
Concept Genetic Diseases, X-Linked
Academic Article Evaluation and comparison of safety, convenience and cost of administering intravenous pamidronate infusions to children in the home and ambulatory care settings.
Academic Article Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
Academic Article Echocardiographic phenotype in osteogenesis imperfecta varies with disease severity.
Academic Article Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.
Academic Article Childhood hypophosphatasia: to treat or not to treat.
Academic Article Burden of disease in pediatric patients with hypophosphatasia: results from the HPP Impact Patient Survey and the HPP Outcomes Study Telephone interview.
Academic Article Proceedings of the 2019 Santa Fe Bone Symposium: New Concepts in the Care of Osteoporosis and Rare Bone Diseases.
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 Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.
Academic Article Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Academic Article Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia.
Academic Article A Delphi panel to build consensus on assessing disease severity and disease progression in adult patients with hypophosphatasia in the United States.

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  • Neurocutaneous
  • Diseases