Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Ana Rath"'
Autor:
Tugce B. Balci, Michael Brudno, Willie H. Chang, Annie Olry, Peter N. Robinson, Sylvie Maiella, Brittney Johnstone, Mia Husić, Sarah L. Sawyer, Pouria Mashouri, Alexander X. Lozano, Ana Rath
Publikováno v:
Genetics in Medicine. 22:1391-1400
Purpose Computational documentation of genetic disorders is highly relianton structured data for differential diagnosis, pathogenic variant identification, and patient matchmaking. However, most information on rare diseases (RDs) exists in free form
Autor:
Ana Rath, Anneliene H. Jonker, Paul Lasko, Hugh Dawkins, Gareth Baynam, Hanns Lochmüller, Virginie Hivert, Yann Le Cam, Ruxandra Draghia-Akli, Christopher P. Austin, Lilian P.L. Lau, Christine M. Cutillo, Kym M. Boycott, Petra Kaufmann
Publikováno v:
Clinical and Translational Science. 11:11-20
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:
Michael Brudno, Victoria Hedley, Anne Hawkins, Anand Vasudevan, Cynthia J. Tifft, Ruxandra Draghia-Akli, Christopher P. Austin, Stephen C. Groft, Paul Lasko, Nigel G. Laing, Hedwig Verhoef, Iiro Eerola, Tudor Groza, Cathy Kiraly-Borri, Lyn Schofield, Melissa A. Haendel, Trinity Mahede, John S. Mattick, Stephanie Broley, Hugh Dawkins, Rachel Thompson, Yann Le Cam, Jack Goldblatt, Peter N. Robinson, Kate Bushby, Nicholas Pachter, Kenjiro Kosaki, Caroline E. Walker, Daria Julkowska, Gareth Baynam, Domenica Taruscio, Hanns Lochmüller, Marcel E. Dinger, Manuel Posada de la Paz, Caron Molster, Annie Olry, William A. Gahl, Jennie Slee, Sharron Townshend, Andreas Zankl, Fowzan S. Alkuraya, Fiona Haslam McKenzie, Faye L. Bowman, Makoto Suematsu, Tarun Weeramanthri, Ken Ishii, Takeya Adachi, Petra Kaufmann, Kym M. Boycott, Mark M. Davis, Kym Mina, Karla J. Lister, John Beilby, Irene Norstedt, Marc Hanauer, Tony Roscioli, Ana Rath, Mark J. Cowley, Sharon F. Terry
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9783319671420
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc69c63b74f6c84288a5ae96442e6df7
https://doi.org/10.1007/978-3-319-67144-4_4
https://doi.org/10.1007/978-3-319-67144-4_4
Autor:
Gareth Baynam, Caron Molster, Jennifer Girschik, Stephen R. Zubrick, Laura J. Miller, Hugh Dawkins, Caroline E. Walker, Tarun Weeramanthri, Ségolène Aymé, Ana Rath, Trinity Mahede, Geoff Davis, Wenxing Sun, Kate Brameld
Publikováno v:
Genetics in Medicine
Purpose: It has been argued that rare diseases should be recognized as a public health priority. However, there is a shortage of epidemiological data describing the true burden of rare diseases. This study investigated hospital service use to provide