Results 141 to 150 of about 1,141,762 (350)
Utahs Family High Risk Program: Bridging the Gap Between Genomics and Public Health
Preventing Chronic Disease, 2005 Background Family history is a simple yet powerful genomic tool that can identify individuals and entire populations at risk for diseases such as heart disease, cancer, and diabetes.
Steven C. Hunt, PhD +5 more
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Multicore system design with XUM: the extensible Utah multicore project
, 2012 Benjamin LaSalle Meakin
openalex +1 more source
Distinguished Service Citation Jim MacMahon Utah State University [PDF]
, 2005 openalex +1 more source
Desiccation of ecosystem-critical microbialites in the shrinking Great Salt Lake, Utah (USA)
, 2023 Carie M. Frantz +9 more
openalex +1 more source
American Journal of Hematology, EarlyView.A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova +10 more
wiley +1 more source
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
Hepatology, EarlyView., 2022 Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Abstract Background and Aims Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real‐world data are lacking.
Shannon M. Vandriel +93 more
wiley +1 more source
Dissent in Zion: Outsider Practices in Utah
New Proposals, 2018 Most communities in Utah are predominately Mormon, and Mormon practices and beliefs strongly influence practices in everyday society and culture. Yet, there also many non-Mormons who live in Utah.
Ezra Anton Greene
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