Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Charles Steward"'
Autor:
Clara D. M. van Karnebeek, Anne O’Donnell-Luria, Gareth Baynam, Anaïs Baudot, Tudor Groza, Judith J. M. Jans, Timo Lassmann, Mary Catherine V. Letinturier, Stephen B. Montgomery, Peter N. Robinson, Stefaan Sansen, Ruty Mehrian-Shai, Charles Steward, Kenjiro Kosaki, Patricia Durao, Bekim Sadikovic
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: “Ensuri
Externí odkaz:
https://doaj.org/article/669290e2ed32488ea080f09a5a972315
Publikováno v:
BJPsych Open, Vol 8 (2022)
There is growing evidence for the use of pharmacogenomics in psychotropic prescribing. People with intellectual disabilities are disproportionately prescribed psychotropics and are at risk of polypharmacy. There is an urgent need for safeguards to pr
Externí odkaz:
https://doaj.org/article/5778fc6eb1134ca98a59e9db53553012
Autor:
Tadashi Imanishi, Takeshi Itoh, Yutaka Suzuki, Claire O'Donovan, Satoshi Fukuchi, Kanako O Koyanagi, Roberto A Barrero, Takuro Tamura, Yumi Yamaguchi-Kabata, Motohiko Tanino, Kei Yura, Satoru Miyazaki, Kazuho Ikeo, Keiichi Homma, Arek Kasprzyk, Tetsuo Nishikawa, Mika Hirakawa, Jean Thierry-Mieg, Danielle Thierry-Mieg, Jennifer Ashurst, Libin Jia, Mitsuteru Nakao, Michael A Thomas, Nicola Mulder, Youla Karavidopoulou, Lihua Jin, Sangsoo Kim, Tomohiro Yasuda, Boris Lenhard, Eric Eveno, Yoshiyuki Suzuki, Chisato Yamasaki, Jun-ichi Takeda, Craig Gough, Phillip Hilton, Yasuyuki Fujii, Hiroaki Sakai, Susumu Tanaka, Clara Amid, Matthew Bellgard, Maria de Fatima Bonaldo, Hidemasa Bono, Susan K Bromberg, Anthony J Brookes, Elspeth Bruford, Piero Carninci, Claude Chelala, Christine Couillault, Sandro J de Souza, Marie-Anne Debily, Marie-Dominique Devignes, Inna Dubchak, Toshinori Endo, Anne Estreicher, Eduardo Eyras, Kaoru Fukami-Kobayashi, Gopal R Gopinath, Esther Graudens, Yoonsoo Hahn, Michael Han, Ze-Guang Han, Kousuke Hanada, Hideki Hanaoka, Erimi Harada, Katsuyuki Hashimoto, Ursula Hinz, Momoki Hirai, Teruyoshi Hishiki, Ian Hopkinson, Sandrine Imbeaud, Hidetoshi Inoko, Alexander Kanapin, Yayoi Kaneko, Takeya Kasukawa, Janet Kelso, Paul Kersey, Reiko Kikuno, Kouichi Kimura, Bernhard Korn, Vladimir Kuryshev, Izabela Makalowska, Takashi Makino, Shuhei Mano, Regine Mariage-Samson, Jun Mashima, Hideo Matsuda, Hans-Werner Mewes, Shinsei Minoshima, Keiichi Nagai, Hideki Nagasaki, Naoki Nagata, Rajni Nigam, Osamu Ogasawara, Osamu Ohara, Masafumi Ohtsubo, Norihiro Okada, Toshihisa Okido, Satoshi Oota, Motonori Ota, Toshio Ota, Tetsuji Otsuki, Dominique Piatier-Tonneau, Annemarie Poustka, Shuang-Xi Ren, Naruya Saitou, Katsunaga Sakai, Shigetaka Sakamoto, Ryuichi Sakate, Ingo Schupp, Florence Servant, Stephen Sherry, Rie Shiba, Nobuyoshi Shimizu, Mary Shimoyama, Andrew J Simpson, Bento Soares, Charles Steward, Makiko Suwa, Mami Suzuki, Aiko Takahashi, Gen Tamiya, Hiroshi Tanaka, Todd Taylor, Joseph D Terwilliger, Per Unneberg, Vamsi Veeramachaneni, Shinya Watanabe, Laurens Wilming, Norikazu Yasuda, Hyang-Sook Yoo, Marvin Stodolsky, Wojciech Makalowski, Mitiko Go, Kenta Nakai, Toshihisa Takagi, Minoru Kanehisa, Yoshiyuki Sakaki, John Quackenbush, Yasushi Okazaki, Yoshihide Hayashizaki, Winston Hide, Ranajit Chakraborty, Ken Nishikawa, Hideaki Sugawara, Yoshio Tateno, Zhu Chen, Michio Oishi, Peter Tonellato, Rolf Apweiler, Kousaku Okubo, Lukas Wagner, Stefan Wiemann, Robert L Strausberg, Takao Isogai, Charles Auffray, Nobuo Nomura, Takashi Gojobori, Sumio Sugano
Publikováno v:
PLoS Biology, Vol 2, Iss 6, p e162 (2004)
The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein requires knowledge of the function of each gene. Currently, our knowledge in this area is still limited. Several lines of investigatio
Externí odkaz:
https://doaj.org/article/06eb24ad78484cfc8526622555aa94d3
Publikováno v:
Journal of Sports Sciences. 40:1-39
Autor:
Inaki Irastorza, Aleksandra Butrym, Robert Smigiel, Alexander Blakes, Meena Balasubramanian, Ihssane El Bouchikhi, Slavica Josifovska, Fernando Cardona, Grzegorz Mazur, Nuno Maia, Charles Steward, Ana Rita Marques, Amaka Offiah, Alexios A. Panoutsopoulos
Publikováno v:
Eur J Hum Genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4e116b3517bed5c553666d1c234e7c0
https://europepmc.org/articles/PMC6876493/
https://europepmc.org/articles/PMC6876493/
Autor:
Daniel Leongamornlert, Mike Kay, Richard Mott, Richard Redon, Tim @timjph Hubbard, Krishnaveni Palaniappan, Fumiaki Ito, Christina Cuomo, Maurice Pitesky, Scott Thurston, Javier Santoyo-Lopez, Laura Clarke, Jean-Louis Petit, Joseph Rodriguez, Robert Nicol, Xose Fernandez, Michael Schuster, Jaime Hughes, Jessica Wollard, Caleb Webber, Adam Siepel, Véronique De Berardinis, Ralf Sudbrak, Takehiko Itoh, Stephanie Malfatti, Panos Deloukas, Charles Steward, Gernot Glöckner, Ernest Lewis, Andy Smith, Judith Flanagan, Kim Pruitt, Sarah Lindsay, MICHAEL MCLELLAN, Angie Hinrichs, Charles Whittaker, Stuart Gammon, Rachel Elizabeth Rigby, Richard Dobson, Ian Dunham, Stephen Keenan
Publikováno v:
Nature. 431:931-945
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic port
Autor:
Stephen Trevanion, Jane Loveland, Mark Thomas, Jose M Gonzalez, Adam Frankish, Charles Steward, Jennifer Harrow, Jonathan Mudge, James Gilbert, Dan Sheppard, Laurens Wilming
Publikováno v:
Nucleic Acids Research
The Vertebrate Genome Annotation (VEGA) database (http://vega.sanger.ac.uk), initially designed as a community resource for browsing manual annotation of the human genome project, now contains five reference genomes (human, mouse, zebrafish, pig and
Autor:
Andy Smith, Charles Steward
Publikováno v:
Trends in Genetics. 15:51-58
The genome sequence of the free-living nematode Caenorhabditis elegans is nearly complete, with resolution of the final difficult regions expected over the next few months. This will represent the first genome of a multicellular organism to be sequen
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