Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ana Rath"'
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:
Erik Jones, Janine Lewis, Peter N. Robinson, Hugh Dawkins, Catherine A. Brownstein, Ingrid A. Holm, Jessica X. Chong, Melissa A. Haendel, Beverly Searle, Cornelius F. Boerkoel, Julie A. McMurry, Tudor Groza, Sharon F. Terry, Kayli Rageth, Michelle Snyder, Christopher J. Mungall, Alastair Kent, Leigh C. Carmody, Chip Chambers, Michael J. Bamshad, Maria G. Della Rocca, Gareth Baynam, Matthew Might, Mark Engelstad, David H. Adams, Erin D. Foster, Allison Heath, Pam Gavin, Kent Shefchek, Ana Rath, Nicole Vasilevsky, Sebastian Köhler, Adam C. Resnick
Publikováno v:
Nature Genetics. 50:474-476
Autor:
Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson, Hélène Dollfus, for the ERN-EYE Ontology Study Group
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-1 (2019)
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-1 (2019)
The optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group of conditions whose clinical heterogenei
Autor:
Gareth, Baynam, Faye, Bowman, Karla, Lister, Caroline E, Walker, Nicholas, Pachter, Jack, Goldblatt, Kym M, Boycott, William A, Gahl, Kenjiro, Kosaki, Takeya, Adachi, Ken, Ishii, Trinity, Mahede, Fiona, McKenzie, Sharron, Townshend, Jennie, Slee, Cathy, Kiraly-Borri, Anand, Vasudevan, Anne, Hawkins, Stephanie, Broley, Lyn, Schofield, Hedwig, Verhoef, Tudor, Groza, Andreas, Zankl, Peter N, Robinson, Melissa, Haendel, Michael, Brudno, John S, Mattick, Marcel E, Dinger, Tony, Roscioli, Mark J, Cowley, Annie, Olry, Marc, Hanauer, Fowzan S, Alkuraya, Domenica, Taruscio, Manuel, Posada de la Paz, Hanns, Lochmüller, Kate, Bushby, Rachel, Thompson, Victoria, Hedley, Paul, Lasko, Kym, Mina, John, Beilby, Cynthia, Tifft, Mark, Davis, Nigel G, Laing, Daria, Julkowska, Yann, Le Cam, Sharon F, Terry, Petra, Kaufmann, Iiro, Eerola, Irene, Norstedt, Ana, Rath, Makoto, Suematsu, Stephen C, Groft, Christopher P, Austin, Ruxandra, Draghia-Akli, Tarun S, Weeramanthri, Caron, Molster, Hugh J S, Dawkins
Publikováno v:
Advances in experimental medicine and biology. 1031
Public health relies on technologies to produce and analyse data, as well as effectively develop and implement policies and practices. An example is the public health practice of epidemiology, which relies on computational technology to monitor the h