检索结果 - Haimel, Matthias

ProteinArchitect: Protein Evolution above the Sequence Level 由 Haimel, Matthias, Pröll, Karin, Rebhan, Michael

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Thrombomodulin in patients with mild to moderate bleeding tendency 由 Mehic, Dino, Tolios, Alexander, Hofer, Stefanie, Ay, Cihan, Haslacher, Helmuth, Downes, Kate, Haimel, Matthias, Pabinger, Ingrid, Gebhart, Johanna

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Elevated levels of tissue factor pathway inhibitor in patients with mild to moderate bleeding tendency 由 Mehic, Dino, Tolios, Alexander, Hofer, Stefanie, Ay, Cihan, Haslacher, Helmuth, Rejtö, Judit, Ouwehand, Willem H., Downes, Kate, Haimel, Matthias, Pabinger, Ingrid, Gebhart, Johanna

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HGVA: the Human Genome Variation Archive 由 Lopez, Javier, Coll, Jacobo, Haimel, Matthias, Kandasamy, Swaathi, Tarraga, Joaquin, Furio-Tari, Pedro, Bari, Wasim, Bleda, Marta, Rueda, Antonio, Gräf, Stefan, Rendon, Augusto, Dopazo, Joaquin, Medina, Ignacio

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SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing 由 Danis, Daniel, Jacobsen, Julius O. B., Balachandran, Parithi, Zhu, Qihui, Yilmaz, Feyza, Reese, Justin, Haimel, Matthias, Lyon, Gholson J., Helbig, Ingo, Mungall, Christopher J., Beck, Christine R., Lee, Charles, Smedley, Damian, Robinson, Peter N.

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Next-generation sequencing: a challenge to meet the increasing demand for training workshops in Australia 由 Watson-Haigh, Nathan S., Shang, Catherine A., Haimel, Matthias, Kostadima, Myrto, Loos, Remco, Deshpande, Nandan, Duesing, Konsta, Li, Xi, McGrath, Annette, McWilliam, Sean, Michnowicz, Simon, Moolhuijzen, Paula, Quenette, Steve, Revote, Jerico Nico De Leon, Tyagi, Sonika, Schneider, Maria V.

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Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension 由 Rhodes, Christopher J., Ghataorhe, Pavandeep, Wharton, John, Rue-Albrecht, Kevin C., Hadinnapola, Charaka, Watson, Geoffrey, Bleda, Marta, Haimel, Matthias, Coghlan, Gerry, Corris, Paul A., Howard, Luke S., Kiely, David G., Peacock, Andrew J., Pepke-Zaba, Joanna, Toshner, Mark R., Wort, S. John, Gibbs, J. Simon R., Lawrie, Allan, Gräf, Stefan, Morrell, Nicholas W., Wilkins, Martin R.

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The cytoskeletal regulator HEM1 governs B-cell development and prevents autoimmunity 由 Salzer, Elisabeth, Zoghi, Samaneh, Kiss, Máté G., Kage, Frieda, Rashkova, Christina, Stahnke, Stephanie, Haimel, Matthias, Platzer, René, Caldera, Michael, Ardy, Rico Chandra, Hoeger, Birgit, Block, Jana, Medgyesi, David, Sin, Celine, Shahkarami, Sepideh, Kain, Renate, Ziaee, Vahid, Hammerl, Peter, Bock, Christoph, Menche, Jörg, Dupré, Loïc, Huppa, Johannes B., Sixt, Michael, Lomakin, Alexis, Rottner, Klemens, Binder, Christoph J., Stradal, Theresia E.B., Rezaei, Nima, Boztug, Kaan

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Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation 由 Shahin, Tala, Mayr, Daniel, Shoeb, Mohamed R., Kuehn, Hye Sun, Hoeger, Birgit, Giuliani, Sarah, Gawriyski, Lisa M., Petronczki, Özlem Yüce, Hadjadj, Jérôme, Bal, Sevgi Köstel, Zoghi, Samaneh, Haimel, Matthias, Jimenez Heredia, Raul, Boutboul, David, Triebwasser, Michael P., Rialland-Battisti, Fanny, Costedoat Chalumeau, Nathalie, Quartier, Pierre, Tangye, Stuart G., Fleisher, Thomas A., Rezaei, Nima, Romberg, Neil, Latour, Sylvain, Varjosalo, Markku, Halbritter, Florian, Rieux-Laucat, Frédéric, Castanon, Irinka, Rosenzweig, Sergio D., Boztug, Kaan

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Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders 由 Downes, Kate, Megy, Karyn, Duarte, Daniel, Vries, Minka, Gebhart, Johanna, Hofer, Stefanie, Shamardina, Olga, Deevi, Sri V. V., Stephens, Jonathan, Mapeta, Rutendo, Tuna, Salih, Al Hasso, Namir, Besser, Martin W., Cooper, Nichola, Daugherty, Louise, Gleadall, Nick, Greene, Daniel, Haimel, Matthias, Martin, Howard, Papadia, Sofia, Revel-Vilk, Shoshana, Sivapalaratnam, Suthesh, Symington, Emily, Thomas, Will, Thys, Chantal, Tolios, Alexander, Penkett, Christopher J., Ouwehand, Willem H., Abbs, Stephen, Laffan, Michael A., Turro, Ernest, Simeoni, Ilenia, Mumford, Andrew D., Henskens, Yvonne M. C., Pabinger, Ingrid, Gomez, Keith, Freson, Kathleen

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Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity 由 Haimel, Matthias, Pazmandi, Julia, Heredia, Raú Jiménez, Dmytrus, Jasmin, Bal, Sevgi Köstel, Zoghi, Samaneh, van Daele, Paul, Briggs, Tracy A., Wouters, Carine, Bader-Meunier, Brigitte, Aeschlimann, Florence A., Caorsi, Roberta, Eleftheriou, Despina, Hoppenreijs, Esther, Salzer, Elisabeth, Bakhtiar, Shahrzad, Derfalvi, Beata, Saettini, Francesco, Kusters, Maaike A. A., Elfeky, Reem, Trück, Johannes, Rivière, Jacques G., van der Burg, Mirjam, Gattorno, Marco, Seidel, Markus G., Burns, Siobhan, Warnatz, Klaus, Hauck, Fabian, Brogan, Paul, Gilmour, Kimberly C., Schuetz, Catharina, Simon, Anna, Bock, Christoph, Hambleton, Sophie, de Vries, Esther, Robinson, Peter N., van Gijn, Marielle, Boztug, Kaan

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Phenotypic characterisation of EIF2AK4 mutation carriers in a large cohort of patients diagnosed clinically with pulmonary arterial hypertension 由 Hadinnapola, Charaka, Bleda, Marta, Haimel, Matthias, Screaton, Nicholas, Swift, Andrew, Dorfmüller, Peter, Preston, Stephen D, Southwood, Mark, Hernandez-Sanchez, Jules, Martin, Jennifer, Treacy, Carmen, Yates, Katherine, Bogaard, Harm, Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A, Gibbs, Simon, Girerd, Barbara, Holden, Simon, Humbert, Marc, Kiely, David G, Lawrie, Allan, Machado, Rajiv, Ross, Robert MacKenzie, Moledina, Shahin, Montani, David, Newnham, Michael, Peacock, Andrew, Pepke-Zaba, Joanna, Rayner-Matthews, Paula, Shamardina, Olga, Soubrier, Florent, Southgate, Laura, Suntharalingam, Jay, Toshner, Mark, Trembath, Richard, Noordegraaf, Anton Vonk, Wilkins, Martin R, Wort, Stephen J, Wharton, John, Gräf, Stefan, Morrell, Nicholas W.

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Loss of Function ABCC8 Mutations in Pulmonary Arterial Hypertension 由 Bohnen, Michael S., Ma, Lijiang, Zhu, Na, Qi, Hongjian, McClenaghan, Conor, Gonzaga-Jauregui, Claudia, Dewey, Frederick E., Overton, John D., Reid, Jeffrey G., Shuldiner, Alan R., Baras, Aris, Sampson, Kevin J., Bleda, Marta, Hadinnapola, Charaka, Haimel, Matthias, Bogaard, Harm J., Church, Colin, Coghlan, Gerry, Corris, Paul A., Eyries, Mélanie, Gibbs, J. Simon R., Girerd, Barbara, Houweling, Arjan C., Humbert, Marc, Guignabert, Christophe, Kiely, David G., Lawrie, Allan, MacKenzie Ross, Rob V., Martin, Jennifer M., Montani, David, Peacock, Andrew J., Pepke-Zaba, Joanna, Soubrier, Florent, Suntharalingam, Jay, Toshner, Mark, Treacy, Carmen M., Trembath, Richard C., Vonk Noordegraaf, Anton, Wharton, John, Wilkins, Martin R., Wort, Stephen J., Yates, Katherine, Gräf, Stefan, Morrell, Nicholas W., Krishnan, Usha, Rosenzweig, Erika B., Shen, Yufeng, Nichols, Colin G., Kass, Robert S., Chung, Wendy K.

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The Human Phenotype Ontology in 2021 由 Köhler, Sebastian, Gargano, Michael, Matentzoglu, Nicolas, Carmody, Leigh C, Lewis-Smith, David, Vasilevsky, Nicole A, Danis, Daniel, Balagura, Ganna, Baynam, Gareth, Brower, Amy M, Callahan, Tiffany J, Chute, Christopher G, Est, Johanna L, Galer, Peter D, Ganesan, Shiva, Griese, Matthias, Haimel, Matthias, Pazmandi, Julia, Hanauer, Marc, Harris, Nomi L, Hartnett, Michael J, Hastreiter, Maximilian, Hauck, Fabian, He, Yongqun, Jeske, Tim, Kearney, Hugh, Kindle, Gerhard, Klein, Christoph, Knoflach, Katrin, Krause, Roland, Lagorce, David, McMurry, Julie A, Miller, Jillian A, Munoz-Torres, Monica C, Peters, Rebecca L, Rapp, Christina K, Rath, Ana M, Rind, Shahmir A, Rosenberg, Avi Z, Segal, Michael M, Seidel, Markus G, Smedley, Damian, Talmy, Tomer, Thomas, Yarlalu, Wiafe, Samuel A, Xian, Julie, Yüksel, Zafer, Helbig, Ingo, Mungall, Christopher J, Haendel, Melissa A, Robinson, Peter N

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Platelet function is modified by common sequence variation in megakaryocyte super enhancers 由 Petersen, Romina, Lambourne, John J., Javierre, Biola M., Grassi, Luigi, Kreuzhuber, Roman, Ruklisa, Dace, Rosa, Isabel M., Tomé, Ana R., Elding, Heather, van Geffen, Johanna P., Jiang, Tao, Farrow, Samantha, Cairns, Jonathan, Al-Subaie, Abeer M., Ashford, Sofie, Attwood, Antony, Batista, Joana, Bouman, Heleen, Burden, Frances, Choudry, Fizzah A., Clarke, Laura, Flicek, Paul, Garner, Stephen F., Haimel, Matthias, Kempster, Carly, Ladopoulos, Vasileios, Lenaerts, An-Sofie, Materek, Paulina M., McKinney, Harriet, Meacham, Stuart, Mead, Daniel, Nagy, Magdolna, Penkett, Christopher J., Rendon, Augusto, Seyres, Denis, Sun, Benjamin, Tuna, Salih, van der Weide, Marie-Elise, Wingett, Steven W., Martens, Joost H., Stegle, Oliver, Richardson, Sylvia, Vallier, Ludovic, Roberts, David J., Freson, Kathleen, Wernisch, Lorenz, Stunnenberg, Hendrik G., Danesh, John, Fraser, Peter, Soranzo, Nicole, Butterworth, Adam S., Heemskerk, Johan W., Turro, Ernest, Spivakov, Mikhail, Ouwehand, Willem H., Astle, William J., Downes, Kate, Kostadima, Myrto, Frontini, Mattia

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Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension 由 Hodgson, Joshua, Swietlik, Emilia M., Salmon, Richard M., Hadinnapola, Charaka, Nikolic, Ivana, Wharton, John, Guo, Jingxu, Liley, James, Haimel, Matthias, Bleda, Marta, Southgate, Laura, Machado, Rajiv D., Martin, Jennifer M., Treacy, Carmen M., Yates, Katherine, Daugherty, Louise C., Shamardina, Olga, Whitehorn, Deborah, Holden, Simon, Bogaard, Harm J., Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A., Danesino, Cesare, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J. Simon R., Girerd, Barbara, Houweling, Arjan C., Howard, Luke, Humbert, Marc, Kiely, David G., Kovacs, Gabor, Lawrie, Allan, MacKenzie Ross, Robert V., Moledina, Shahin, Montani, David, Olschewski, Andrea, Olschewski, Horst, Ouwehand, Willem H., Peacock, Andrew J., Pepke-Zaba, Joanna, Prokopenko, Inga, Rhodes, Christopher J., Scelsi, Laura, Seeger, Werner, Soubrier, Florent, Suntharalingam, Jay, Toshner, Mark R., Trembath, Richard C., Noordegraaf, Anton Vonk, Wort, Stephen J., Wilkins, Martin R., Yu, Paul B., Li, Wei, Gräf, Stefan, Upton, Paul D., Morrell, Nicholas W.

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Identification of rare sequence variation underlying heritable pulmonary arterial hypertension 由 Gräf, Stefan, Haimel, Matthias, Bleda, Marta, Hadinnapola, Charaka, Southgate, Laura, Li, Wei, Hodgson, Joshua, Liu, Bin, Salmon, Richard M., Southwood, Mark, Machado, Rajiv D., Martin, Jennifer M., Treacy, Carmen M., Yates, Katherine, Daugherty, Louise C., Shamardina, Olga, Whitehorn, Deborah, Holden, Simon, Aldred, Micheala, Bogaard, Harm J., Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A., Danesino, Cesare, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J. Simon R., Girerd, Barbara, Houweling, Arjan C., Howard, Luke, Humbert, Marc, Kiely, David G., Kovacs, Gabor, MacKenzie Ross, Robert V., Moledina, Shahin, Montani, David, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Peacock, Andrew J., Pepke-Zaba, Joanna, Prokopenko, Inga, Rhodes, Christopher J., Scelsi, Laura, Seeger, Werner, Soubrier, Florent, Stein, Dan F., Suntharalingam, Jay, Swietlik, Emilia M., Toshner, Mark R., van Heel, David A., Vonk Noordegraaf, Anton, Waisfisz, Quinten, Wharton, John, Wort, Stephen J., Ouwehand, Willem H., Soranzo, Nicole, Lawrie, Allan, Upton, Paul D., Wilkins, Martin R., Trembath, Richard C., Morrell, Nicholas W.

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Whole-genome sequencing of patients with rare diseases in a national health system 由 Turro, Ernest, Astle, William J, Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S, Downes, Kate, Haimel, Matthias, Tuna, Salih, Aitman, Timothy J, Bennett, David L, Calleja, Paul, Carss, Keren, Caulfield, Mark J, Chinnery, Patrick F, Dixon, Peter H, Gale, Daniel P, James, Roger, Koziell, Ania, Laffan, Michael A, Levine, Adam P, Maher, Eamonn R, Markus, Hugh S, Morales, Joannella, Morrell, Nicholas W, Mumford, Andrew D, Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B, Saleem, Moin A, Smith, Kenneth G C, Stark, Hannah, Tan, Rhea Y Y, Themistocleous, Andreas C, Thrasher, Adrian J, Watkins, Hugh, Webster, Andrew R, Wilkins, Martin R, Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R, Kingston, Nathalie, Walker, Neil, Bradley, John R, Ashford, Sofie, Penkett, Christopher J, Freson, Kathleen, Stirrups, Kathleen E, Raymond, F Lucy, Ouwehand, Willem H

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Assemblathon 1: A competitive assessment of de novo short read assembly methods 由 Earl, Dent, Bradnam, Keith, St. John, John, Darling, Aaron, Lin, Dawei, Fass, Joseph, Yu, Hung On Ken, Buffalo, Vince, Zerbino, Daniel R., Diekhans, Mark, Nguyen, Ngan, Ariyaratne, Pramila Nuwantha, Sung, Wing-Kin, Ning, Zemin, Haimel, Matthias, Simpson, Jared T., Fonseca, Nuno A., Birol, İnanç, Docking, T. Roderick, Ho, Isaac Y., Rokhsar, Daniel S., Chikhi, Rayan, Lavenier, Dominique, Chapuis, Guillaume, Naquin, Delphine, Maillet, Nicolas, Schatz, Michael C., Kelley, David R., Phillippy, Adam M., Koren, Sergey, Yang, Shiaw-Pyng, Wu, Wei, Chou, Wen-Chi, Srivastava, Anuj, Shaw, Timothy I., Ruby, J. Graham, Skewes-Cox, Peter, Betegon, Miguel, Dimon, Michelle T., Solovyev, Victor, Seledtsov, Igor, Kosarev, Petr, Vorobyev, Denis, Ramirez-Gonzalez, Ricardo, Leggett, Richard, MacLean, Dan, Xia, Fangfang, Luo, Ruibang, Li, Zhenyu, Xie, Yinlong, Liu, Binghang, Gnerre, Sante, MacCallum, Iain, Przybylski, Dariusz, Ribeiro, Filipe J., Yin, Shuangye, Sharpe, Ted, Hall, Giles, Kersey, Paul J., Durbin, Richard, Jackman, Shaun D., Chapman, Jarrod A., Huang, Xiaoqiu, DeRisi, Joseph L., Caccamo, Mario, Li, Yingrui, Jaffe, David B., Green, Richard E., Haussler, David, Korf, Ian, Paten, Benedict

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The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease 由 Astle, William J., Elding, Heather, Jiang, Tao, Allen, Dave, Ruklisa, Dace, Mann, Alice L., Mead, Daniel, Bouman, Heleen, Riveros-Mckay, Fernando, Kostadima, Myrto A., Lambourne, John J., Sivapalaratnam, Suthesh, Downes, Kate, Kundu, Kousik, Bomba, Lorenzo, Berentsen, Kim, Bradley, John R., Daugherty, Louise C., Delaneau, Olivier, Freson, Kathleen, Garner, Stephen F., Grassi, Luigi, Guerrero, Jose, Haimel, Matthias, Janssen-Megens, Eva M., Kaan, Anita, Kamat, Mihir, Kim, Bowon, Mandoli, Amit, Marchini, Jonathan, Martens, Joost H.A., Meacham, Stuart, Megy, Karyn, O’Connell, Jared, Petersen, Romina, Sharifi, Nilofar, Sheard, Simon M., Staley, James R., Tuna, Salih, van der Ent, Martijn, Walter, Klaudia, Wang, Shuang-Yin, Wheeler, Eleanor, Wilder, Steven P., Iotchkova, Valentina, Moore, Carmel, Sambrook, Jennifer, Stunnenberg, Hendrik G., Di Angelantonio, Emanuele, Kaptoge, Stephen, Kuijpers, Taco W., Carrillo-de-Santa-Pau, Enrique, Juan, David, Rico, Daniel, Valencia, Alfonso, Chen, Lu, Ge, Bing, Vasquez, Louella, Kwan, Tony, Garrido-Martín, Diego, Watt, Stephen, Yang, Ying, Guigo, Roderic, Beck, Stephan, Paul, Dirk S., Pastinen, Tomi, Bujold, David, Bourque, Guillaume, Frontini, Mattia, Danesh, John, Roberts, David J., Ouwehand, Willem H., Butterworth, Adam S., Soranzo, Nicole

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