Clinical Impact of Molecular Subtyping of Pancreatic Cancer

por Zhou, Xu, Hu, Kai, Bailey, Peter, Springfeld, Christoph, Roth, Susanne, Kurilov, Roma, Brors, Benedikt, Gress, Thomas, Buchholz, Malte, An, Jingyu, Wei, Kongyuan, Peccerella, Teresa, Büchler, Markus W., Hackert, Thilo, Neoptolemos, John P.
Publicado 2021

The history of seabird colonies and the North Water ecosystem: Contributions from palaeoecological and archaeological evidence

por Davidson, Thomas A., Wetterich, Sebastian, Johansen, Kasper L., Grønnow, Bjarne, Windirsch, Torben, Jeppesen, Erik, Syväranta, Jari, Olsen, Jesper, González-Bergonzoni, Ivan, Strunk, Astrid, Larsen, Nicolaj K., Meyer, Hanno, Søndergaard, Jens, Dietz, Rune, Eulears, Igor, Mosbech, Anders
Publicado 2018

Predicting 2-year neurodevelopmental outcomes in extremely preterm infants using graphical network and machine learning approaches

por Juul, Sandra E., Wood, Thomas R., German, Kendell, Law, Janessa B., Kolnik, Sarah E., Puia-Dumitrescu, Mihai, Mietzsch, Ulrike, Gogcu, Semsa, Comstock, Bryan A., Li, Sijia, Mayock, Dennis E., Heagerty, Patrick J.
Publicado 2022

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

por Foley, A. Reghan, Zou, Yaqun, Dunford, James E., Rooney, Jachinta, Chandra, Goutam, Xiong, Hui, Straub, Volker, Voit, Thomas, Romero, Norma, Donkervoort, Sandra, Hu, Ying, Markello, Thomas, Horn, Adam, Qebibo, Leila, Dastgir, Jahannaz, Meilleur, Katherine G., Finkel, Richard S., Fan, Yanbin, Mamchaoui, Kamel, Duguez, Stephanie, Nelson, Isabelle, Laporte, Jocelyn, Santi, Mariarita, Malfatti, Edoardo, Maisonobe, Thierry, Touraine, Philippe, Hirano, Michio, Hughes, Imelda, Bushby, Kate, Oppermann, Udo, Böhm, Johann, Jaiswal, Jyoti K., Stojkovic, Tanya, Bönnemann, Carsten G.
Publicado 2020

Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency

por Webb, Bryn D, Nowinski, Sara M, Solmonson, Ashley, Ganesh, Jaya, Rodenburg, Richard J, Leandro, Joao, Evans, Anthony, Vu, Hieu S, Naidich, Thomas P, Gelb, Bruce D, DeBerardinis, Ralph J, Rutter, Jared, Houten, Sander M
Publicado 2023

Neonatal motor functional connectivity and motor outcomes at age two years in very preterm children with and without high-grade brain injury

por Cyr, Peppar E.P., Lean, Rachel E., Kenley, Jeanette K., Kaplan, Sydney, Meyer, Dominique E., Neil, Jeffery J., Alexopoulos, Dimitrios, Brady, Rebecca G., Shimony, Joshua S., Rodebaugh, Thomas L., Rogers, Cynthia E., Smyser, Christopher D.
Publicado 2022

Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study

por Brocklebank, Vicky, Walsh, Patrick R., Smith-Jackson, Kate, Hallam, Thomas M., Marchbank, Kevin J., Wilson, Valerie, Bigirumurame, Theophile, Dutt, Tina, Montgomery, Emma K., Malina, Michal, Wong, Edwin K. S., Johnson, Sally, Sheerin, Neil S., Kavanagh, David
Publicado 2023

Mixed model association scans of multi-environmental trial data reveal major loci controlling yield and yield related traits in Hordeum vulgare in Mediterranean environments

por Comadran, J., Russell, J. R., Booth, A., Pswarayi, A., Ceccarelli, S., Grando, S., Stanca, A. M., Pecchioni, N., Akar, T., Al-Yassin, A., Benbelkacem, A., Ouabbou, H., Bort, J., van Eeuwijk, F. A., Thomas, W. T. B., Romagosa, I.
Publicado 2011

A homozygous missense variant in CHRM3 associated with familial urinary bladder disease

por Beaman, Glenda M., Galatà, Gabriella, Teik, Keng W., Urquhart, Jill E., Aishah, Ali, O'Sullivan, James, Bhaskar, Sanjeev S., Wood, Katherine A., Thomas, Huw B., O'Keefe, Raymond T., Woolf, Adrian S., Stuart, Helen M., Newman, William G.
Publicado 2019

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria

por Adeyemo, Adebolajo, Faridi, Rabia, Chattaraj, Parna, Yousaf, Rizwan, Tona, Risa, Okorie, Samuel, Bharadwaj, Thashi, Nouel-Saied, Liz M., Acharya, Anushree, Schrauwen, Isabelle, Morell, Robert J., Leal, Suzanne M., Friedman, Thomas B., Griffith, Andrew J., Roux, Isabelle
Publicado 2021

Digital signal integrity and stability in the ATLAS Level-1 Calorimeter Trigger

por Achenbach, R, Adragna, P, Aharrouche, M, Andrei, V, Åsman, B, Barnett, B M, Bauss, B, Bendel, M, Bohm, C, Booth, J R A, Bracinik, J, Brawn, I P, Charlton, D G, Childers, J T, Collins, N J, Curtis, C J, Davis, A O, Eckweiler, S, Eisenhandler, E F, Faulkner, P J W, Fleckner, J, Föhlisch, F, Gee, C N P, Gillman, A R, Goringer, C, Groll, M, Hadley, D R, Hanke, P, Hellman, S, Hidvegi, A, Hillier, S J, Johansen, M, Kluge, E E, Kühl, T, Landon, M, Lendermann, V, Lilley, J N, Mahboubi, K, Mahout, G, Meier, K, Middleton, R P, Moa, T, Morris, J D, Müller, F, Neusiedl, A, Ohm, C, Oltmann, B, Perera, V J O, Prieur, D P F, Qian, W, Rieke, S, Rühr, F, Sankey, D P C, Schäfer, U, Schmitt, K, Schultz-Coulon, H C, Silverstein, S, Sjölin, J, Staley, R J, Stamen, R, Stockton, M C, Tan, C L A, Tapprogge, S, Thomas, J P, Thompson, P D, Watkins, P M, Watson, A, Weber, P, Wessels, M, Wildt, M
Publicado 2008

Control, Test and Monitoring Software Framework for the ATLAS Level-1 Calorimeter Trigger

por Achenbach, R, Adragna, P, Aharrouche, M, Andrei, V, Åsman, B, Barnett, B M, Bauss, B, Bendel, M, Bohm, C, Booth, J R A, Bracinik, J, Brawn, I P, Charlton, D G, Childers, J T, Collins, N J, Curtis, C J, Davis, A O, Eckweiler, S, Eisenhandler, E F, Faulkner, P J W, Fleckner, J, Föhlisch, F, Gee, C N P, Gillman, A R, Goringer, C, Groll, M, Hadley, D R, Hanke, P, Hellman, S, Hidvegi, A, Hillier, S J, Johansen, M, Kluge, E E, Kühl, T, Landon, M, Lendermann, V, Lilley, J N, Mahboubi, K, Mahout, G, Meier, K, Middleton, R P, Moa, T, Morris, J D, Müller, F, Neusiedl, A, Ohm, C, Oltmann, B, Perera, V J O, Prieur, D P F, Qian, W, Rieke, S, Rühr, F, Sankey, D P C, Schäfer, U, Schmitt, K, Schultz-Coulon, H C, Silverstein, S, Sjölin, J, Staley, R J, Stamen, R, Stockton, M C, Tan, C L A, Tapprogge, S, Thomas, J P, Thompson, P D, Watkins, P M, Watson, A, Weber, P, Wessels, M, Wildt, M
Publicado 2008

Rationale and design of the PeriOperative ISchemic Evaluation-3 (POISE-3): a randomized controlled trial evaluating tranexamic acid and a strategy to minimize hypotension in noncar...

por Marcucci, Maura, Painter, Thomas W., Conen, David, Leslie, Kate, Lomivorotov, Vladimir V., Sessler, Daniel, Chan, Matthew T. V., Borges, Flavia K., Martínez Zapata, Maria J., Wang, C. Y., Xavier, Denis, Ofori, Sandra N., Landoni, Giovanni, Efremov, Sergey, Kleinlugtenbelt, Ydo V., Szczeklik, Wojciech, Schmartz, Denis, Garg, Amit X., Short, Timothy G., Wittmann, Maria, Meyhoff, Christian S., Amir, Mohammed, Torres, David, Patel, Ameen, Duceppe, Emmanuelle, Ruetzler, Kurtz, Parlow, Joel L., Tandon, Vikas, Wang, Michael K., Fleischmann, Edith, Polanczyk, Carisi A., Jayaram, Raja, Astrakov, Sergey V., Rao, Mangala, VanHelder, Tomas, Wu, William K. K., Cheong, Chao Chia, Ayad, Sabry, Abubakirov, Marat, Kirov, Mikhail, Bhatt, Keyur, de Nadal, Miriam, Likhvantsev, Valery, Iglesisas, Pilar Paniagua, Aguado, Hector J., McGillion, Michael, Lamy, Andre, Whitlock, Richard P., Roshanov, Pavel, Stillo, David, Copland, Ingrid, Vincent, Jessica, Balasubramanian, Kumar, Bangdiwala, Shrikant I., Biccard, Bruce, Kurz, Andrea, Srinathan, Sadeesh, Petit, Shirley, Eikelboom, John, Richards, Toby, Gross, Peter L., Alfonsi, Pascal, Guyatt, Gordon, Belley-Cote, Emily, Spence, Jessica, McIntyre, William, Yusuf, Salim, Devereaux, P. J.
Publicado 2022

A proteomic survival predictor for COVID-19 patients in intensive care

por Demichev, Vadim, Tober-Lau, Pinkus, Nazarenko, Tatiana, Lemke, Oliver, Kaur Aulakh, Simran, Whitwell, Harry J., Röhl, Annika, Freiwald, Anja, Mittermaier, Mirja, Szyrwiel, Lukasz, Ludwig, Daniela, Correia-Melo, Clara, Lippert, Lena J., Helbig, Elisa T., Stubbemann, Paula, Olk, Nadine, Thibeault, Charlotte, Grüning, Nana-Maria, Blyuss, Oleg, Vernardis, Spyros, White, Matthew, Messner, Christoph B., Joannidis, Michael, Sonnweber, Thomas, Klein, Sebastian J., Pizzini, Alex, Wohlfarter, Yvonne, Sahanic, Sabina, Hilbe, Richard, Schaefer, Benedikt, Wagner, Sonja, Machleidt, Felix, Garcia, Carmen, Ruwwe-Glösenkamp, Christoph, Lingscheid, Tilman, Bosquillon de Jarcy, Laure, Stegemann, Miriam S., Pfeiffer, Moritz, Jürgens, Linda, Denker, Sophy, Zickler, Daniel, Spies, Claudia, Edel, Andreas, Müller, Nils B., Enghard, Philipp, Zelezniak, Aleksej, Bellmann-Weiler, Rosa, Weiss, Günter, Campbell, Archie, Hayward, Caroline, Porteous, David J., Marioni, Riccardo E., Uhrig, Alexander, Zoller, Heinz, Löffler-Ragg, Judith, Keller, Markus A., Tancevski, Ivan, Timms, John F., Zaikin, Alexey, Hippenstiel, Stefan, Ramharter, Michael, Müller-Redetzky, Holger, Witzenrath, Martin, Suttorp, Norbert, Lilley, Kathryn, Mülleder, Michael, Sander, Leif Erik, Kurth, Florian, Ralser, Markus
Publicado 2022

Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes

por Breuer, Katinka, Riedhammer, Korbinian M., Müller, Nicole, Schaidinger, Birthe, Dombrowsky, Gregor, Dittrich, Sven, Zeidler, Susanne, Bauer, Ulrike M. M., Westphal, Dominik S., Meitinger, Thomas, Dakal, Tikam Chand, Hitz, Marc-Phillip, Breuer, Johannes, Reutter, Heiko, Hilger, Alina C., Hoefele, Julia
Publicado 2022

Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency

por Oheim, Ralf, Zimmerman, Kristin, Maulding, Nathan D, Stürznickel, Julian, von Kroge, Simon, Kavanagh, Dillon, Stabach, Paul R, Kornak, Uwe, Tommasini, Steven M, Horowitz, Mark C, Amling, Michael, Thompson, David, Schinke, Thorsten, Busse, Björn, Carpenter, Thomas O., Braddock, Demetrios T
Publicado 2019

Pyrin dephosphorylation is sufficient to trigger inflammasome activation in familial Mediterranean fever patients

por Magnotti, Flora, Lefeuvre, Lucie, Benezech, Sarah, Malsot, Tiphaine, Waeckel, Louis, Martin, Amandine, Kerever, Sébastien, Chirita, Daria, Desjonqueres, Marine, Duquesne, Agnès, Gerfaud‐Valentin, Mathieu, Laurent, Audrey, Sève, Pascal, Popoff, Michel‐Robert, Walzer, Thierry, Belot, Alexandre, Jamilloux, Yvan, Henry, Thomas
Publicado 2019

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

por Repp, Birgit M., Mastantuono, Elisa, Alston, Charlotte L., Schiff, Manuel, Haack, Tobias B., Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B., Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J. M., Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus F. M., Moroni, Isabella, Smet, Joél, Mayr, Johannes A., Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J., McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M., Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W., Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia
Publicado 2018

Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

por Sherwood, Kitty, Ward, Joseph C., Soriano, Ignacio, Martin, Lynn, Campbell, Archie, Rahbari, Raheleh, Kafetzopoulos, Ioannis, Sproul, Duncan, Green, Andrew, Sampson, Julian R., Donaldson, Alan, Ong, Kai-Ren, Heinimann, Karl, Nielsen, Maartje, Thomas, Huw, Latchford, Andrew, Palles, Claire, Tomlinson, Ian
Publicado 2023

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2

por Kennedy, Hannah, Haack, Tobias B., Hartill, Verity, Mataković, Lavinija, Baumgartner, E. Regula, Potter, Howard, Mackay, Richard, Alston, Charlotte L., O’Sullivan, Siobhan, McFarland, Robert, Connolly, Grainne, Gannon, Caroline, King, Richard, Mead, Scott, Crozier, Ian, Chan, Wandy, Florkowski, Chris M., Sage, Martin, Höfken, Thomas, Alhaddad, Bader, Kremer, Laura S., Kopajtich, Robert, Feichtinger, René G., Sperl, Wolfgang, Rodenburg, Richard J., Minet, Jean Claude, Dobbie, Angus, Strom, Tim M., Meitinger, Thomas, George, Peter M., Johnson, Colin A., Taylor, Robert W., Prokisch, Holger, Doudney, Kit, Mayr, Johannes A.
Publicado 2016