Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Russell, Butterfield"'
Autor:
Robert Lewis, Makenzie Fulmer, Jian Zhao, Lucilla Pizzo, Ting Wen, John O'Shea, Thomas Nicholas, Steven Boyden, David Viskochil, Nicola Longo, Ashley Andrews, Erin Baldwin, Matt Velinder, Russell Butterfield, Karin Dent, Kourtney Santucci, Austin Larson, Rong Mao, Lorenzo Botto, Pinar Bayrak-Toydemir
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101470- (2024)
Externí odkaz:
https://doaj.org/article/ceab867783d74befb1ecce6c03ae6be5
Autor:
Makenzie Fulmer, Matt Velinder, Ashley Andrews, Russell Butterfield, Rong Mao, Kourtney Santucci, Lorenzo Botto, Pinar Bayrak-Toydemir
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100509- (2023)
Externí odkaz:
https://doaj.org/article/b35f08ef9acb478c8803766fa0d72044
Autor:
Alistair Ward, Mary A. Karren, Tonya Di Sera, Chase Miller, Matt Velinder, Yi Qiao, Francis M. Filloux, Betsy Ostrander, Russell Butterfield, Joshua L. Bonkowsky, Willard Dere, Gabor T. Marth
Publikováno v:
Journal of Clinical and Translational Science, Vol 1, Pp 381-386 (2017)
IntroductionComputational analysis of genome or exome sequences may improve inherited disease diagnosis, but is costly and time-consuming.MethodsWe describe the use of iobio, a web-based tool suite for intuitive, real-time genome diagnostic analyses.
Externí odkaz:
https://doaj.org/article/0f0a690e74cd4c9ca40ed9325a12314f
Autor:
Katy Eichinger, Michael McDermott, Kiley Higgs, Michaela Walker, Leann Lewis, William Martens, Doris Leung, Nikia Stinson, Megan M. Holzer, Sabrina Sacconi, Jeremy Garcia, Victor De Paz Benito, Karlien Mul, Valeria Sansone, Elena Carraro, Stefano Becchiati, Maria Chiara Frisoni, Leo Wang, Catherine Kieu, Perry Shieh, Christy Skura, Bakri Elsheikh, Kristina Kelly, Andrea Jaworek, Samantha LoRusso, Russell Butterfield, Amelia Wilson, Melissa McIntyre, Nicholas Johnson, Amanda Butler, Aileen Jones, Melissa Hayes, Lindsay Baker, Sandhya Sasidharan, Alrabi Tawil, Jeffrey Statland
Publikováno v:
Sunday, April 23.
Autor:
Michaela Walker, Russell Butterfield, John Day, Katy Eichinger, Bakri Elsheikh, Seth Friedman, Angela Genge, Kiley Higgs, Nicholas Johnson, Peter Jones, Doris Leung, Leann Lewis, Hanns Lochmuller, Erin O'Ferrall, William Martens, Dennis Shaw, Perry Shieh, S Subramony, Jaya Trivedi, Leo Wang, Matthew Wicklund, Alrabi Tawil, Jeffrey Statland
Publikováno v:
Sunday, April 23.
Autor:
Craig M McDonald, Eduardo Marbán, Suzanne Hendrix, Nathaniel Hogan, Rachel Ruckdeschel Smith, Michelle Eagle, Richard S Finkel, Cuixia Tian, Joanne Janas, Matthew M Harmelink, Arun S Varadhachary, Michael D Taylor, Kan N Hor, Oscar H Mayer, Erik K Henricson, Pat Furlong, Deborah D Ascheim, Siegfried Rogy, Paula Williams, Linda Marbán, Russell Butterfield, Anne Connolly, Francesco Muntoni, Nanette C. Joyce, Maya Evans, Mehrdad Abedi, Prasanth Surampudi, Sanjay Jhawar, Jonathan G. Dayan, Colleen Anthonisen, Erica Goude, Alina Nicorici, Omaid Sarwary, Poonam Prasad, Jayoon Baek, Andrew Newton, Hannah Johnson, Kyle Kusmik, Lauri Filar, Angie Edmondson, Irina Rybalsky, Wendy Chouteau, Anthony F. Giordano, Aixa Rodriguez, Kristan Anderson, Germaine Wezel, Melisa Vega, Julie Duke, Jorge Collado, Matthew Civitello, Julie Wells, Erika Pyzik, Rebecca Rehborg, Michelle Brown, Jennifer Van Eyk, Russell G. Rogers
Publikováno v:
The Lancet. 399:1049-1058
Cardiosphere-derived cells (CDCs) ameliorate skeletal and cardiac muscle deterioration in experimental models of Duchenne muscular dystrophy. The HOPE-2 trial examined the safety and efficacy of sequential intravenous infusions of human allogeneic CD
Autor:
Heba Morsy, Mehdi Benkirane, Elisa Cali, Clarissa Rocca, Kristina Zhelcheska, Valentina Cipriani, Evangelia Galanaki, Reza Maroofian, Stephanie Efthymiou, David Murphy, Mary O’Driscoll, Mohnish Suri, Siddharth Banka, Jill Clayton-Smith, Thomas Wright, Melody Redman, Jennifer A. Bassetti, Mathilde Nizon, Benjamin Cogne, Rami Abu Jamra, Tobias Bartolomaeus, Marion Heruth, Ilona Krey, Janina Gburek-Augustat, Dagmar Wieczorek, Felix Gattermann, Meriel Mcentagart, Alice Goldenberg, Lucie Guyant-Marechal, Hector Garcia-Moreno, Paola Giunti, Brigitte Chabrol, Severine Bacrot, Roger Buissonnière, Virginie Magry, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Béla Melegh, András Szabó, Katalin Sümegi, Mireille Cossée, Monica Ziff, Russell Butterfield, David Hunt, Georgina Bird-Lieberman, Michael Hanna, Michel Koenig, Michael Stankewich, Jana Vandrovcova, Henry Houlden, J.C. Ambrose, P. Arumugam, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, H. Brittain, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, A. de Burca, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, J.M. Hackett, D. Halai, A. Hamblin, S. Henderson, J.E. Holman, T.J.P. Hubbard, K. Ibáñez, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, C. Patch, D. Perez-Gil, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2022, ⟨10.1016/j.gim.2022.09.013⟩
Queen Square Genomics 2023, ' Expanding SPTAN1 monoallelic variant associated disorders : From epileptic encephalopathy to pure spastic paraplegia and ataxia ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 1, pp. 76-89 . https://doi.org/10.1016/j.gim.2022.09.013
Genetics in Medicine, 2022, ⟨10.1016/j.gim.2022.09.013⟩
Queen Square Genomics 2023, ' Expanding SPTAN1 monoallelic variant associated disorders : From epileptic encephalopathy to pure spastic paraplegia and ataxia ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 1, pp. 76-89 . https://doi.org/10.1016/j.gim.2022.09.013
On behalf of Queen Square Genomics On behalf of Genomics England Research Consortium; International audience; Purpose: Nonerythrocytic αII-spectrin (SPTAN1) variants have been previously associated with intellectual disability and epilepsy. We condu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98bed7407f3676cdb65ab360030ed566
https://hal.science/hal-03840317/document
https://hal.science/hal-03840317/document
Autor:
Victor, Ronald G, Sweeney, H. Lee, Finkel, Richard, Mcdonald, Craig M, Byrne, Barry, Eagle, Michelle, Goemans, Nathalie, Vandenborne, Krista, Dubrovsky, Alberto L, Topaloglu, Haluk, Miceli, M. Carrie, Furlong, Pat, Landry, John, Elashoff, Robert, Cox, David, Hoda, Abdel-Hamid, Susan, Apkon, Richard, Barohn, Elena, Belousova, Enrico, Bertini, John, Brandsema, Claudio, Bruno, William, Burnette, Russell, Butterfield, Barry, Byrne, Craig, Campbell, Jose, Carlo, Jong-Hee, Chae, Saleel, Chandratre, Giacomo, Comi, Anne, Connolly, Imelda De Groot, Nicolas, Deconinck, Joseph, Dooley, Alberto, Dubrovsky, Julien, Durigneux, Erika, Finanger, Richard, Finkel, L Matthew Frank, Nathalie, Goemans, Amy, Harper, Ayako, Hattori, Ozlem, Herguner, Susan, Iannaccone, Joanne, Janas, Yuh-Jyh, Jong, Janberd, Kirschner, Hirofumi, Komaki, Nancy, Kuntz, Wang-Tso, Lee, Edward, Leung, Jean, Mah, Katherine, Mathews, Craig, Mcdonald, Eugenio, Mercuri, Hugh, Mcmillan, Wolfgang, Mueller-Felber, Adolfo Lopez de Munain, Akinori, Nakamura, Erik, Niks, Katsuhisa, Ogata, Samuel, Pascual, Pegoraro, Elena, Yann, Pereon, Ben, Renfroe, Ratna Bhavaraju Sanka, Jens, Schallner, Ulrike, Schara, Kathryn, Selby, Isabel Illa Sendra, Laurent, Servais, Edward, Smith, Susan, Sparks, Haluk, Topaloglu, Ron, Victor, Juan Jose Vilchez, Matthew, Wicklund, Ekkehard, Wilichoswki, Brenda, Wong
Publikováno v:
Neurology, vol 89, iss 17
Neurology
Neurology, 89(17), 1811-1820
Neurology, 89 (17
Neurology
Neurology, 89(17), 1811-1820
Neurology, 89 (17
To conduct a randomized trial to test the primary hypothesis that once-daily tadalafil, administered orally for 48 weeks, lessens the decline in ambulatory ability in boys with Duchenne muscular dystrophy (DMD).
info:eu-repo/semantics/published
info:eu-repo/semantics/published
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e0e6503a882dfb553f43c58e0475c30
https://ora.ox.ac.uk/objects/uuid:07acefc6-f3c1-43d6-aaff-dd314f53221c
https://ora.ox.ac.uk/objects/uuid:07acefc6-f3c1-43d6-aaff-dd314f53221c