Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Courtney Hum"'
Autor:
Shiri Shinar, Gaea S. Moore, G M Schauer, Susan Blaser, Tim Van Mieghem, Courtney Hum, David Chitayat, Patrick Shannon, Tony Parks, Karen Chong
Publikováno v:
Pediatric and Developmental Pathology. 24:175-186
Introduction Although fetal brain injury due to COL4A1 gene mutation is well documented, fetal central nervous system (CNS) and placental histopathology lack description. We report CNS and placental pathology in fetal cases with symptomatic COL4A1 mu
Autor:
Tuyen Tran, Andrei Constantinescu, Minal Jain, Courtney Hum, Nicole Sultanum, James J. Dowling, Casie A. Genetti, Carsten G. Bönnemann, Oscar H. Meyer, Mamadou Diallo, Jahannaz Dastgir, Michael W. Lawlor, Meryl Acker, Michael Brudno, Alan H. Beggs, Leslie Nelson, Michael Glueck, Kimberly Amburgey, Faiza Syed, Samia Saeed, Stacy Hewson, C.H. Wang, Reshma Amin
Publikováno v:
Neurology
article-version (Version of Record) 3
article-version (Version of Record) 3
ObjectiveNemaline myopathy (NM) is a rare neuromuscular condition with clinical and genetic heterogeneity. To establish disease natural history, we performed a cross-sectional study of NM, complemented by longitudinal assessment and exploration of pi
Publikováno v:
Technologies, Vol 12, Iss 8, p 138 (2024)
Trace concentrations of dyes are often present in textile wastewater streams and present a serious environmental problem. Thus, these dyes must be removed from wastewater either by degradation or sequestration prior to discharge of the wastewater int
Externí odkaz:
https://doaj.org/article/e5ffd06cb70e4c978b028d233ad8f4dc
Autor:
Rachel Thompson, Stanley J. F. Laulederkind, Richard H. Scott, Panagiotis I. Sergouniotis, Ada Hamosh, Mark Engelstad, Hanns Lochmüller, Gareth Baynam, Richard Sever, Roger James, Hugh Dawkins, Laureen E. Connell, C. Turner, Andrew D. Devereau, Susan M. Bello, Michael Brudno, Courtney Hum, Cynthia L. Smith, Julie A. McMurry, Michael M. Segal, Damian Smedley, Gholson J. Lyon, Helen V. Firth, Ingo Helbig, Tom Vulliamy, Roland Krause, Patrick F. Chinnery, Franz Schaefer, Ernest Turro, Melissa A. Haendel, Cornelius F. Boerkoel, Peter N. Robinson, Willem H. Ouwehand, Orion J. Buske, Kym M. Boycott, Volker Straub, Bert B.A. de Vries, Daniel Greene, Valentina Cipriani, Erin D. Foster, Annie Olry, Julius O.B. Jacobsen, Laura E. DeMare, Marijcke W. M. Veltman, Nikolas Pontikos, Andreas Zankl, Tudor Groza, Kathleen Freson, Sebastian Köhler, Ana Rath, Nicole Vasilevsky, Julie von Ziegenweidt, Ségolène Aymé, Soichi Ogishima, Johanna A. Jähn, Jing Yu, Tomasz Zemojtel, Stephan Züchner, Christopher J. Mungall
Publikováno v:
Köhler, S, Vasilevsky, N A, Engelstad, M, Foster, E, McMurry, J, Aymé, S, Baynam, G, Bello, S M, Boerkoel, C F, Boycott, K M, Brudno, M, Buske, O J, Chinnery, P F, Cipriani, V, Connell, L E, Dawkins, H J S, DeMare, L E, Devereau, A D, De Vries, B B A, Firth, H V, Freson, K, Greene, D, Hamosh, A, Helbig, I, Hum, C, Jähn, J A, James, R, Krause, R, Laulederkind, S J F, Lochmüller, H, Lyon, G J, Ogishima, S, Olry, A, Ouwehand, W H, Pontikos, N, Rath, A, Schaefer, F, Scott, R H, Segal, M, Sergouniotis, P I, Sever, R, Smith, C L, Straub, V, Thompson, R, Turner, C, Turro, E, Veltman, M W M, Vulliamy, T, Yu, J, Von Ziegenweidt, J, Zankl, A, Züchner, S, Zemojtel, T, Jacobsen, J O B, Groza, T, Smedley, D, Mungall, C J, Haendel, M & Robinson, P N 2017, ' The Human Phenotype Ontology in 2017 ', Nucleic acids research, vol. 45, no. D1, pp. D865-D876 . https://doi.org/10.1093/nar/gkw1039
Nucleic Acids Research
Nucleic Acids Research, 45, D1, pp. D865-d876
Köhler, S; Vasilevsky, NA; Engelstad, M; Foster, E; McMurry, J; Aymé, S; et al.(2017). The human phenotype ontology in 2017. Nucleic Acids Research, 45(D1), D865-D876. doi: 10.1093/nar/gkw1039. Lawrence Berkeley National Laboratory: Lawrence Berkeley National Laboratory. Retrieved from: http://www.escholarship.org/uc/item/2w17n1nt
Nucleic Acids Research, 45, D865-d876
Nucleic Acids Research. (2016).
Nucleic Acids Research
Nucleic Acids Research, 45, D1, pp. D865-d876
Köhler, S; Vasilevsky, NA; Engelstad, M; Foster, E; McMurry, J; Aymé, S; et al.(2017). The human phenotype ontology in 2017. Nucleic Acids Research, 45(D1), D865-D876. doi: 10.1093/nar/gkw1039. Lawrence Berkeley National Laboratory: Lawrence Berkeley National Laboratory. Retrieved from: http://www.escholarship.org/uc/item/2w17n1nt
Nucleic Acids Research, 45, D865-d876
Nucleic Acids Research. (2016).
Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.hum
Autor:
Robin Z. Hayeems, Ronald D. Cohn, Michael Brudno, Jasmin Bhawra, Iris Cohn, Cheryl Shuman, Kate Tsiplova, Sarah Bowdin, Marta Girdea, Raveen K. Basran, Shinya Ito, Wendy J. Ungar, Stephen W. Scherer, D James Stavropoulos, Christian R. Marshall, Courtney Hum, M. Stephen Meyn, Nasim Monfared
The clinical use of whole-genome sequencing (WGS) is expected to alter pediatric medical management. The study aimed to describe the type and cost of healthcare activities following pediatric WGS compared to chromosome microarray (CMA). Healthcare ac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc42a94720f4239e631916fe387bc241
https://europepmc.org/articles/PMC5865210/
https://europepmc.org/articles/PMC5865210/
Autor:
Xiang Li, Steve P. Bernier, Courtney Hum, George A. O'Toole, Michael G. Surette, Nathan A. Magarvey
Publikováno v:
Journal of bacteriology. 199(13)
Competitive interactions mediated by released chemicals (e.g., toxins) are prominent in multispecies communities, but the effects of these chemicals at subinhibitory concentrations on susceptible bacteria are poorly understood. Although Pseudomonas a
Autor:
Jessica Roller, Anna Pfeiffer, Courtney Humphries, Chloe Richard, Jon Easter, Stefanie Ferreri, Melanie Livet
Publikováno v:
Pharmacy, Vol 11, Iss 4, p 121 (2023)
To support the successful integration of community pharmacies into value-based care models, research on the feasibility and effectiveness of novel pharmacist-provided patient care services is needed. The UNC Eshelman School of Pharmacy, supported by
Externí odkaz:
https://doaj.org/article/a638c2d602e34bc0903d7b3ea4280840
Autor:
Byung Hee Han, Brooke Cofell, Emily Everhart, Courtney Humpal, Sam-Sik Kang, Sang Kook Lee, Jeong Sook Kim-Han
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 11, p 5885 (2022)
Deposition of fibrillar forms of amyloid β-protein (Aβ) is commonly found in patients with Alzheimer’s disease (AD) associated with cognitive decline. Impaired clearance of Aβ species is thought to be a major cause of late-onset sporadic AD. Aβ
Externí odkaz:
https://doaj.org/article/9cd2d84239e14cc0b400f5a5eaccd58e