Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Heidi L. Cope"'
Autor:
Heidi L. Cope, Holden W. Hemingway, Benjamin M. Saul, Rauchelle E. Richey, Amy M. Moore, Austin M. Shokraeifard, Albert H. Olivencia‐Yurvati, Michael L. Smith, Steven A. Romero
Publikováno v:
The FASEB Journal. 36
Autor:
Edward C. Smith, Liwen Wang, Shalini N. Jhangiani, B. Kim Andrews, Alexander C. Allori, Adam W. Hansen, Sherry S. Ross, Sarah Ellestad, Brita Boyd, Joanne Kurtzberg, Fritz J. Sedlazeck, V. Reid Sutton, Eric Boerwinkle, Erica E. Davis, Jill A. Rosenfeld, Aniko Sabo, Jennifer E. Posey, C. Michael Cotten, Jeffrey R. Marcus, Yezmin Perilla, James R. Lupski, Richard A. Gibbs, Mohammed Mikati, John S. Wiener, Heidi L. Cope, Michael M. Khayat, Pengfei Liu, Misha Angrist, Sara H. Katsanis, Sujay Kansagra, Stephen Miller, William Gallentine, Amanda French, Nicholas Katsanis, Mullai Murugan, Eileen Chambers, Allison E. Ashley-Koch, Theresa Curington, Amy P. Murtha, He Li, Patricia L. Ashley, Donna M. Muzny, Kimberley A. Fisher, Zeynep Coban Akdemir, Kevin D. Hill, Azita Sadeghpour, Margarita Bidegain, Todd Purves, Michael F. Wangler, Carolyn Pizoli, Christine M. Eng, Yaping Yang, Ronald N. Goldberg, Marie T. McDonald
Publikováno v:
Am J Hum Genet
The advent of inexpensive, clinical exome sequencing (ES) has led to the accumulation of genetic data from thousands of samples from individuals affected with a wide range of diseases, but for whom the underlying genetic and molecular etiology of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f874576161d739d85d6b845742fe3d2
https://europepmc.org/articles/PMC6849092/
https://europepmc.org/articles/PMC6849092/
Autor:
Andrew S. deLemos, Heidi L. Cope, Kyle J. Thompson, Ting Li, Krista Bossi, Elizabeth Brandon-Warner, Mark W. Russo, Iain H. McKillop, Jennifer H Benbow, Laura W. Schrum, Catherine R. Culberson, Keith S. Gersin
Publikováno v:
The American Journal of Pathology. 186:145-158
Obesity is an independent risk factor for the development of liver fibrosis/cirrhosis and hepatocellular carcinoma (HCC). Tenascin-C (TnC), an extracellular matrix protein, is transiently expressed during tissue injury and plays a role in fibrogenesi
Autor:
Priya S. Kishnani, Heidi L. Cope, Crista Walters, Zoheb B. Kazi, Stephanie DeArmey, Ankit K. Desai
Patients with Pompe disease have realized significant medical benefits due to enzyme replacement therapy (ERT) infusions with alglucosidase alfa. However, regular infusions are time-consuming. Utilizing recommended infusion rates, infusion duration i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bf4f0f9a94a914b119340a83f68dff6
https://europepmc.org/articles/PMC5808871/
https://europepmc.org/articles/PMC5808871/
Autor:
Nathen J. Ellis, Karen Soldano, Heidi L. Cope, Allison E. Ashley-Koch, Melanie E. Garrett, Kaitlyn Dunlap, Simon G. Gregory, Marcy C. Speer, J. Michael Rusnak
Publikováno v:
Birth Defects Research Part B: Developmental and Reproductive Toxicology. 98:365-373
Neural tube defects (NTDs) are caused by improper neural tube closure during the early stages of embryonic development. NTDs are hypothesized to have a complex genetic origin and numerous candidate genes have been proposed. The nitric oxide synthase