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    Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome by Leiding, Jennifer W., Vogel, Tiphanie P., Smith, Madison R., Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Neven, Bénédicte, Ronan Leahy, Timothy, Taskinen, Mervi, Kostyuchenko, Larysa, Scherbina, Anna, Bauer, Cindy S., Giovannini-Chami, Lisa, Romberg, Neil, Prince, Benjamin T., Bohnsack, John, Pachlopnik Schmid, Jana, Bahna, Sami, Brothers, Shannon, Chan, Alice Y., Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Desai, Mukesh M., Gottrand, Frédéric, Grimbacher, Bodo, Hoffman, Hal M., Guerrerio, Anthony L., Kainulainen, Leena, Lawrence, Monica G., Martelius, Timi, Neth, Olaf, Lugo Reyes, Saúl Oswaldo, Russell, Mark A., Schejter, Yael, Skevofilax, Effie, Suan, Daniel, Velasco, Helena, Walkovich, Kelly, Aleshkevich, Svetlana, Allende, Luis M., Atschekzei, Faranaz, Aygunes, Utku, Barlogis, Vincent, Belko, John, Bezrodnik, Liliana, Biebl, Ariane, Caldirola, Maria Soledad, Castelle, Martin, Cokugras, Haluk, Cox, Fionnuala, Dalgic, Buket, ASH Dalm, Virgil, Dujovny, Tal, Eken, Ahmet, Fabre, Alexandre, Fischer, Alain, Hannibal, Mark, Huppert, Laura, Karakoc-Aydiner, Elif, Pac Kisaarslan, Ayşenur, Kiykim, Ayca, Klocperk, Adam, Kuzmenko, Natalia, Lianou, Dimitra, Lorenz, Myriam Ricarda, Manson, Ania, Marega, Lia Furlaneto, Nolan, David, Norlin, Anna-Carin, Oleastro, Matias, Ozcan, Alper, Picard, Capucine, Polychronopoulou, Sophia, Quesada, Juan Francisco, Randall, Katrina L., Resin, Geraldine, Rodina, Yulia, Rohrlich, Pierre, Sachs, Johnathan, Sakovich, Inga, Santarlas, Christopher, Scheffler Mendoza, Selma C., Schwarz, Klaus, Sediva, Anna, Slatter, Mary, Sleasman, John, Suratannon, Narissara, Tanita, Kay, Travis, Stephen, Tsinti, Maria, Unal, Ekrem, Urdinez, Luciano, Vazquez-Gomez, Felisa, Weiss, Mitchell J., Zhang, Yu, Seppänen, Mikko R.J., Sogkas, Georgios, Milner, Joshua D., Forbes Satter, Lisa R.

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    Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations by Lorenzini, Tiziana, Fliegauf, Manfred, Klammer, Nils, Proietti, Michele, Bulashevska, Alla, Schejter, Yael D., Atschekzei, Faranaz, Stepensky, Polina, Pedroza, Luis A., van der Flier, Michiel, Martínez-Gallo, Mónica, Svec, Peter, Fischer, Ute, Ip, Winnie, Geha, Raif, Chou, Janet, Alosaimi, Mohammed, Weintraub, Lauren, Dos Santos Vilela, Maria Marluce, Holzinger, Dirk, Seidl, Maximilian, Lougaris, Vassilios, Plebani, Alessandro, Abolhassani, Hassan, Thaventhiran, James E., Warnatz, Klaus, Grimbacher, Bodo, Ashford, Sofie, Bacchelli, Chiara, Batista, Joana, Bibi, Shahnaz, Boardman, Barbara, Booth, Claire, Breen, Gerome, Burns, Siobhan O., Burren, Oliver S., Carss, Keren, Chambers, John, Cooper, Nichola, Davies, E.G., Dempster, John, Dewhurst, Eleanor F., Drewe, Elizabeth, Duarte, Daniel, Edgar, J. David M., Egner, William, El-Shanawany, Tariq, Erwood, Marie, Fox, James, Frontini, Mattia, Furnell, Abigail, Gaspar, H. Bobby, Gleadall, Nicholas S., Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Haimel, Matthias, Hayman, Grant, Hu, Fengyuan, Huissoon, Aarnoud P., Jolles, Stephen, Kasanicki, Mary A., Kelleher, Peter, Klein, Nigel, Kreuzhuber, Roman, Kuijpers, Taco W., Kumararatne, Dinakantha, Allen, Hana Lango, Linger, Rachel, Lorenzo, Lorena E., Maimaris, Jesmeen, Martin, Jennifer, McDermott, Elizabeth M., Meacham, Stuart, Morrisson, Valerie, Nasir, Iman, Nejentsev, Sergey, Papadia, Sofia, Ponsford, Mark J., Quinn, Ellen, Quinti, Isabella, Rayner-Matthews, Paula J., Samani, Nilesh, Sanchis-Juan, Alba, Savic, Sinisa, Simpson, Michael A., Smith, Kenneth G.C., Thaventhiran, James E., Tilly, Tobias, Titterton, Catherine, Tuna, Salih, Urniaz, Rafal, von Ziegenweidt, Julie, Watt, Christopher, Welch, Steven B., Whitehorn, Deborah, Wood, Yvette, Workman, Sarita, Worth, Austen, Young, Timothy

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    Scalable and robust SARS-CoV-2 testing in an academic center by Aitken, Jim, Ambrose, Karen, Barrell, Sam, Beale, Rupert, Bineva-Todd, Ganka, Biswas, Dhruva, Byrne, Richard, Caidan, Simon, Cherepanov, Peter, Churchward, Laura, Clark, Graham, Crawford, Margaret, Cubitt, Laura, Dearing, Vicky, Earl, Christopher, Edwards, Amelia, Ekin, Chris, Fidanis, Efthymios, Gaiba, Alessandra, Gamblin, Steve, Gandhi, Sonia, Goldman, Jacki, Goldstone, Robert, Grant, Paul R., Greco, Maria, Heaney, Judith, Hindmarsh, Steve, Houlihan, Catherine F., Howell, Michael, Hubank, Michael, Hughes, Deborah, Instrell, Rachael, Jackson, Deborah, Jamal-Hanjani, Mariam, Jiang, Ming, Johnson, Mark, Jones, Leigh, Kanu, Nnennaya, Kassiotis, George, Kirk, Stuart, Kjaer, Svend, Levett, Andrew, Levett, Lisa, Levi, Marcel, Lu, Wei-Ting, MacRae, James I., Matthews, John, McCoy, Laura E., Moore, Catherine, Moore, David, Nastouli, Eleni, Nicod, Jerome, Nightingale, Luke, Olsen, Jessica, O’Reilly, Nicola, Pabari, Amar, Papayannopoulos, Venizelos, Patel, Namita, Peat, Nigel, Pollitt, Marc, Ratcliffe, Peter, Reis e Sousa, Caetano, Rosa, Annachiara, Rosenthal, Rachel, Roustan, Chloe, Rowan, Andrew, Shin, Gee Yen, Snell, Daniel M., Song, Ok-Ryul, Spyer, Moira J., Strange, Amy, Swanton, Charles, Turner, James M. A., Turner, Melanie, Wack, Andreas, Walker, Philip A., Ward, Sophia, Wong, Wai Keong, Wright, Joshua, Wu, Mary

    Published in Nature biotechnology
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    De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures by Duarte, Sofia T., Charles, Perinne, Pfundt, Rolph, van Bokhoven, Hans, van Ravenswaaij-Arts, Conny, Morrell, Nicholas W., Thrasher, Adrian, Fletcher, Debra, Veltman, Marijke, Davis, John, Frary, Amy, Martin, Jennifer M., Collins, Janine, Favier, Remi, Hart, Daniel, Heemskerk, Johan W.M., Liesner, Ri, Mangles, Sarah, Roughley, Catherine, Tait, R. Campbell, Thachil, Jecko, Van Geet, Chris, De Vries, Minka, Warner, Timothy Q., Furnell, Abigail, Mapeta, Rutendo, Whitehorn, Deborah, Daugherty, Louise, Deevi, Sri V.V., Hu, Fengyuan, Matser, Vera, Megy, Karyn, Tuna, Salih, von Ziegenweldt, Julie, Haimel, Matthias, Richardson, Sylvia, Rankin, Stuart, Anderson, Julie, Stock, Sophie, Armstrong, Ruth, Bitner-Glindzicz, Maria, Brady, Angie, Clement, Emma, Firth, Helen, Flinter, Frances, French, Courtney, Holder, Muriel, Hurst, Jane, Josifova, Dragana, Krishnakumar, Deepa, Kurian, Manju A., Mehta, Sarju, Moore, Anthony, Rankin, Julia, Reid, Evan, Scott, Richard, Thomas, Ellen, Wassmer, Evangeline, Creaser-Myers, Amanda, Gall, Henning, Ghataorhe, Pavandeep K., Houweling, Arjan C., in’t Veld, Anna Huis, Ross, Rob V. Mackenzie, Rhodes, Christopher J., Soubrier, Florent, Treacy, Carmen M., Vonk Noordegraaf, Anton, Antrobus, Richard, Arumugakani, Gururaj, Bibi, Shahnaz, Devlin, Lisa, Ghurye, Rohit, Grigoriadou, Sofia, Harper, Lorraine, Herwadkar, Archana, Jolles, Stephen, Kumararatne, Dinakantha, Lorenzo, Lorena, Murng, Sai, Nejentsev, Sergey, Quinti, Isabella, Samarghitean, Crina, Savic, Sinisa, Yong, Patrick, Ancliff, Phil, Layton, Mark, Mead, Adam, Roy, Noémi, Chambers, Jenny, Estiu, Cecelia, Simpson, Michael, Emmerson, Ingrid, McCarthy, Mark, Van Zuydam, Natalie, Afzal, Maryam, Colby, Elizabeth, Boycott, Kym M., Majewski, Jacek, Dyment, David

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    Whole-genome sequencing of patients with rare diseases in a national health system by Turro, Ernest, Astle, William, Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver, Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri, Aitman, Timothy, Bennett, David, Calleja, Paul, Carss, Keren, Caulfield, Mark, Chinnery, Patrick, Dixon, Peter, Gale, Daniel, James, Roger, Koziell, Ania, Laffan, Michael, Levine, Adam, Maher, Eamonn, Markus, Hugh, Morales, Joannella, Morrell, Nicholas, Mumford, Andrew, Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi, Saleem, Moin, Smith, Kenneth, Stark, Hannah, Tan, Rhea, Themistocleous, Andreas, Thrasher, Adrian, Watkins, Hugh, Webster, Andrew, Wilkins, Martin, Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David, Abbs, Stephen, Abulhoul, Lara, Adlard, Julian, Ahmed, Munaza, Alachkar, Hana, Allsup, David, Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Attwood, Anthony, Aurora, Paul, Babbs, Christian, Bacchelli, Chiara, Bakchoul, Tamam, Banka, Siddharth, Bariana, Tadbir, Barwell, Julian, Batista, Joana, Baxendale, Helen, Beales, Phil, Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria, Black, Graeme, Bleda, Marta, Blesneac, Iulia, Bockenhauer, Detlef, Bogaard, Harm, Bourne, Christian, Boyce, Sara, Bradley, John, Bragin, Eugene, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Andrew, Browning, Michael, Buchan, Rachel, Buckland, Matthew, Bueser, Teofila, Diz, Carmen Bugarin, Burn, John, Burns, Siobhan

    Published in Nature (London)
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    Whole-genome sequencing of patients with rare diseases in a national health system by Turro, Ernest, Astle, William, Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver, Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri, Aitman, Timothy, Bennett, David, Calleja, Paul, Carss, Keren, Caulfield, Mark, Chinnery, Patrick, Dixon, Peter, Gale, Daniel, James, Roger, Koziell, Ania, Laffan, Michael, Levine, Adam, Maher, Eamonn, Markus, Hugh, Morales, Joannella, Morrell, Nicholas, Mumford, Andrew, Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi, Saleem, Moin, Smith, Kenneth, Stark, Hannah, Tan, Rhea, Themistocleous, Andreas, Thrasher, Adrian, Watkins, Hugh, Webster, Andrew, Wilkins, Martin, Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David, Abbs, Stephen, Abulhoul, Lara, Adlard, Julian, Ahmed, Munaza, Alachkar, Hana, Allsup, David, Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Attwood, Anthony, Aurora, Paul, Babbs, Christian, Bacchelli, Chiara, Bakchoul, Tamam, Banka, Siddharth, Bariana, Tadbir, Barwell, Julian, Batista, Joana, Baxendale, Helen, Beales, Phil, Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria, Black, Graeme, Bleda, Marta, Blesneac, Iulia, Bockenhauer, Detlef, Bogaard, Harm, Bourne, Christian, Boyce, Sara, Bradley, John, Bragin, Eugene, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Andrew, Browning, Michael, Buchan, Rachel, Buckland, Matthew, Bueser, Teofila, Diz, Carmen Bugarin, Burn, John, Burns, Siobhan

    Published in Nature (London)
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