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pro vyhledávání: '"Joseph T C, Shieh"'
Autor:
Joseph T C, Shieh
Publikováno v:
Pediatrics & Neonatology. 64:S18-S21
Human genome variation has increasingly posed challenges and opportunities for patients, medical providers, and an increasing group of stakeholders including advocacy groups, disadvantaged communities, public health experts, and scientists. Here, adv
Autor:
Joseph T C Shieh
Publikováno v:
PLoS Genetics, Vol 15, Iss 2, p e1007870 (2019)
Externí odkaz:
https://doaj.org/article/35adfb3171c24b94a0825933b9e02cc2
Publikováno v:
PLoS ONE, Vol 6, Iss 5, p e19481 (2011)
BackgroundThe heart responds to myriad stresses by well-described transcriptional responses that involve long-term changes in gene expression as well as more immediate, transient adaptations. MicroRNAs quantitatively regulate mRNAs and thus may affec
Externí odkaz:
https://doaj.org/article/b6d57590a7e3409bbc63256915d053b6
Autor:
Sarah W, DeParis, Michele, Bloomer, Ying, Han, M Reza, Vagefi, Joseph T C, Shieh, David A, Solomon, James, Grenert, Alejandra G, de Alba Campomanes
Publikováno v:
Ocular oncology and pathology. 3(2)
Uveal ganglioneuroma is a rare tumor that usually occurs in association with neurofibromatosis type 1. Here, we present a rare case of a uveal ganglioneuroma leading to a diagnosis of the tumor predisposition condition Cowden syndrome.A 5-year-old gi
Autor:
Tom Cushing, Joseph T. C. Shieh
Publikováno v:
Signs and Symptoms of Genetic Conditions: A Handbook
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::868665143f1e3762378e97fb897fad92
https://doi.org/10.1093/med/9780199930975.003.0024
https://doi.org/10.1093/med/9780199930975.003.0024
Autor:
Joseph T C, Shieh
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical genetics. (3)
Noncompaction/hypertrabeculation is increasingly being recognized in children and adults, yet we understand little about the causes of disease. Genes associated with noncompaction/hypertrabeculation have been identified, but how can these assist in c