Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Balázs Bánfai"'
Publikováno v:
Studies in health technology and informatics. 205
SNOMED CT is a vital component in the future of semantic interoperability in healthcare as it provides the meaning to EHRs via its semantically rich, controlled terminology. Communicating the concepts of this terminology to both humans and machines i
Autor:
Robert Altshuler, Laura Elnitski, Michael Anaya, Alec Victorsen, Deborah Winter, Javier Herrero, Katherine Varley, Andrea Sboner, Oscar Junhong Luo, Marco Mariotti, Cristina Sisu, Mike Kay, Timothy Dreszer, Jane Loveland, Alexandra Bignell, Ewan Birney, Tim @timjph Hubbard, Kuljeet Sandhu, Eric Haugen, Chris Gunter, Alexej Abyzov, Lucas Ward, Georgi Marinov, Michael Pazin, Thomas Gingeras, Alexander Dobin, Kimberly Foss, Xianjun Dong, Benoit Miotto, Piotr Mieczkowski, Cedric Notredame, Andrew Berry, Shawn Gillespie, Axel Visel, Shawn Levy, Richard Sandstrom, Jose M Gonzalez, Melissa Fullwood, Timo Lassmann, Michael Tress, Julien Lagarde, Kevin Yip, Leslie Adams, Sylvain Foissac, Bronwen Aken, Piero Carninci, Suganthi Balasubramanian, Andrea Tanzer, Sarah Djebali, Michael Hoffman, Gloria Despacio-Reyes, Peter Park, Felix Kokocinski, Katherine Fisher-Aylor, Juan M Vaquerizas, Peggy Farnham, Patrick Collins, Amonida Zadissa, Pedro Ferreira, Philippe Batut, Michael Snyder, Electra Tapanari, Adam Frankish, Paul Flicek, AMARTYA SANYAL, Tyler Alioto, Giovanni Bussotti, Laurence Meyer, Jingyi Jessica Li, Matthew Blow, Tristan FRUM, Roger Alexander, Rory Johnson, Charles Steward, Meizhen Zheng, Margus Lukk, Ross Hardison, Claire Davidson, Gary Saunders, Alan Boyle, Luiz Penalva, Rajinder Kaul, Lazaro Centanin, Florencia Pauli Behn, Thomas Derrien, Nathan Sheffield, Toby Hunt, Eric Nguyen, Jeff Vierstra, Konrad Karczewski, Kimberly Bell, Yanbao Yu, Hagen U Tilgner, James Taylor, Balázs Bánfai, Catherine Snow, Benjamin Vernot, Stephan Kirchmaier, Michael Sammeth, Steven Wilder, Angelika Merkel, Joanna Mieczkowska, Guoliang Li, Wei Lin, Jennifer Harrow, Thomas Oliver Auer, Daniel Barrell, Eddie Park, Alvis Brazma, Hazuki Takahashi, Nathan Johnson, Daniel Sobral, Terry Furey, Alexandre Reymond, Jonathan Mudge, Anshul Kundaje, Jose Rodriguez, Akshay Bhinge, James Gilbert, Jakub Karczewski, Venkat Malladi, Troy Whitfield, Orion Buske, Ian Dunham, Jennifer Moran, Joachim Wittbrodt, Charles B. Epstein, Laurens Wilming, Jason Gertz, Joshua Akey, Joel Rozowsky
Publikováno v:
Nature
Nature, Nature Publishing Group, 2012, 489 (7414), pp.57-74. ⟨10.1038/nature11247⟩
NATURE
Nature, Vol. 489, No 7414 (2012) pp. 57-74
PMC
Recercat. Dipósit de la Recerca de Catalunya
instname
Nature, Nature Publishing Group, 2012, 489 (7414), pp.57-74. ⟨10.1038/nature11247⟩
NATURE
Nature, Vol. 489, No 7414 (2012) pp. 57-74
PMC
Recercat. Dipósit de la Recerca de Catalunya
instname
The human genome encodes the blueprint of life, but the function of the vast majority of its nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) project has systematically mapped regions of transcription, transcription fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b208801384684d0028cc28316677b0d
https://hal.archives-ouvertes.fr/hal-01217624
https://hal.archives-ouvertes.fr/hal-01217624
Publikováno v:
Studies in health technology and informatics. 150
One of the main challenges of achieving interoperability using the HL7 V3 healthcare standard is the lack of clear definition and supporting tools for modeling, testing, and conformance checking. Currently, the knowledge defining the modeling is scat
Autor:
Manaswini Sivaramakrishnan, Kathleen D. McCarthy, Sébastien Campagne, Sylwia Huber, Sonja Meier, Angélique Augustin, Tobias Heckel, Hélène Meistermann, Melanie N. Hug, Pascale Birrer, Ahmed Moursy, Sarah Khawaja, Roland Schmucki, Nikos Berntenis, Nicolas Giroud, Sabrina Golling, Manuel Tzouros, Balazs Banfai, Gonzalo Duran-Pacheco, Jens Lamerz, Ying Hsiu Liu, Thomas Luebbers, Hasane Ratni, Martin Ebeling, Antoine Cléry, Sergey Paushkin, Adrian R. Krainer, Frédéric H.-T. Allain, Friedrich Metzger
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-13 (2017)
Small molecules correcting the splicing deficit of the survival of motor neuron 2 (SMN2) gene have been identified as having therapeutic potential. Here, the authors provide evidence that SMN2 mRNA forms a ribonucleoprotein complex that can be specif
Externí odkaz:
https://doaj.org/article/86ed63c63e664f938352b802e813bfcc
Conference
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