Treffer 1 - 14 von 14 für Suche 'Whitehorn, Elizabeth M', Suchdauer: 1,17s Treffer weiter einschränken
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    Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations von 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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    Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans von Tuijnenburg, Paul, Jansen, Machiel H., Carss, Keren J., Baxendale, Helen, Chandra, Anita, Seneviratne, Suranjith L., Oksenhendler, Eric, Tool, Anton T.J., Whitehorn, Deborah, Turro, Ernest, Thaventhiran, James E., Kuijpers, Taco W., Adhya, Zoe, Anantharachagan, Ariharan, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bibi, Shahnaz, Booth, Claire, Browning, Michael, Burns, Siobhan, Clifford, Hayley, Cooper, Nichola, Davies, Sophie, Devlin, Lisa, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Hackett, Scott, Hague, Rosie, Hayman, Grant, Jolles, Stephen, Jones, Julie, Kelleher, Peter, Klein, Nigel, Kuijpers, Taco, Kumararatne, Dinakantha, Laffan, James, Lango Allen, Hana, Lear, Sara, Longhurst, Hilary, Maimaris, Jesmeen, McDermott, Elizabeth, Morrisson, Valerie, Nasir, Iman, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Samarghitean, Crina, Savic, Sinisa, Seneviratne, Suranjith, Simeoni, Ilenia, Staples, Emily, Steele, Cathal, Thaventhiran, James, Thomas, Moira, Thrasher, Adrian, Worth, Austen, Yong, Patrick, Bradley, John, Hammerton, Tracey, Ouwehand, Willem, Raymond, F Lucy, Veltman, Marijke, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Erwood, Marie, Frary, Amy, Linger, Rachel, Papadia, Sofia, Rehnstrom, Karola, Astle, William, Attwood, Antony, Bleda, Marta, Carss, Keren, Daugherty, Louise, Deevi, Sri, Graf, Stefan, Greene, Daniel, Halmagyi, Csaba, Matser, Vera, Meacham, Stuart, Megy, Karyn, Shamardina, Olga, Titterton, Catherine, Tuna, Salih, Turro, Ernest, von Ziegenweldt, Julie, Furnell, Abigail, Staines, Simon, Stephens, Jonathan, Whitehorn, Deborah, Watt, Christopher


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    Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes von West, Hannah, Carss, Keren, Shakeel, Hassan, Adlard, Julian, Cole, Trevor, Kwong, Ava, Paterson, Joan, Searle, Claire, Skytte, Anne-Bine, Aitman, Timothy, Ambegaonkar, Gautum, Antrobus, Richard, Arno, Gavin, Astle, William, Attwood, Antony, Austin, Steve, Bakchoul, Tamam, Bennett, David, Bitner-Glindzicz, Maria, Bleda, Marta, Bolton-Maggs, Paula, Booth, Claire, Clements-Brod, Naomi, Clowes, Virginia, Collins, Peter, Cookson, Victoria, Creaser-Myers, Amanda, DaCosta, Rosa, Davies, Sophie, Deegan, Patrick, Dewhurst, Eleanor, Doffinger, Rainer, Drewe, Elizabeth, Favier, Remi, Firth, Helen, Furie, Bruce, Furnell, Abigail, Gardham, Alice, Gissen, Paul, Gomez, Keith, Graf, Stefan, Gräf, Stefan, Greenhalgh, Alan, Hackett, Scott, Haimel, Matthias, Herwadkar, Archana, Holder, Muriel, Huissoon, Aarnoud, James, Roger, Kennedy, Fiona, Kingston, Nathalie, Kuijpers, Taco, Lawrie, Allan, Lentaigne, Claire, Machado, Rajiv, Maher, Eamonn, Mangles, Sarah, Manson, Ania, Matser, Vera, McDermott, Elizabeth, Megy, Karyn, Millar, Carolyn M., Morrell, Nicholas, Ouwehand, Willem H., Papadia, Sofia, Payne, Jeanette, Peacock, Andrew, Pollock, Val, Quinti, Isabella, Rayner-Matthews, Paula, Rehnstrom, Karola, Rhodes, Christopher J., Richardson, Sylvia, Richter, Alex, Rondina, Matthew, Rosser, Elisabeth, Rue-Albrecht, Kevin, Sargur, Ravishankar, Savic, Sinisa, Schotte, Gwen, Schulze, Harald, Seneviratne, Suranjith, Shamardina, Olga, Simeoni, Ilenia, Staines, Simon, Stark, Hannah, Stock, Sophie, Thaventhiran, James, Thompson, Dorothy, Toh, Cheng-Hock, Turek, Wojciech, Wassmer, Evangeline, Watt, Christopher, Wharton, John, Williamson, Catherine, Woods, Geoff, Wort, John, Yeatman, Nigel, Tischkowitz, Marc D., Maher, Eamonn R.


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    Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data von Mead, Adam, Manzur, Adnan, Thrasher, Adrian, Sanchis-Juan, Alba, Creaser-Myers, Amanda, Peacock, Andrew J, Mumford, Andrew, Rice, Andrew, Brady, Angie, Koziell, Ania, Attwood, Antony, Girerd, Barbara, Williamson, Catherine, Deshpande, Charu, Toh, Cheng-Hock, Bacchelli, Chiara, Babbs, Christian, Bryson, Christine, Rhodes, Christopher J, Watt, Christopher, Lentaigne, Claire, McJannet, Coleen, Bennett, David, Gosal, David, Perry, David J, Keeling, David, Montani, David, Whitehorn, Deborah, Kumararatne, Dinakantha, Thompson, Dorothy, Maher, Eamonn, Wong, Edwin K. S, Louka, Eleni, Rosser, Elisabeth, Chalmers, Elizabeth, Wakeling, Emma, Reid, Evan, Polwarth, Gary, Boggard, Harm J, Firth, Helen, Markus, Hugh S, Wanjiku, Ivy, Payne, Jeanette, Pepke-Zaba, Joanna, Rankin, Julia, Vogt, Julie, von Ziegenweldt, Julie, Rehnstrom, Karola, Peerlinck, Kathelijne, Gilmour, Kimberley, Devlin, Lisa, Willcocks, Lisa, Daugherty, Louise, Chitre, Manali, Humbert, Marc, Bitner-Glindzicz, Maria, Erwood, Marie, Veltman, Marijke, Layton, Mark, Mathias, Mary, Laffan, Michael A, Gattens, Michael, Mahdi-Rogers, Mohamed, Thomas, Moira, Dormand, Natalie, Ghali, Neeti, Cooper, Nichola, Roy, Noémi, Alavijeh, Omid S, Nurden, Paquita, Chinnery, Patrick, Deegan, Patrick, Man, Patrick Yu Wai, Collins, Peter, Linger, Rachel, Favier, Remi, Liesner, Ri, Henderson, Robert, DaCosta, Rosa, Hague, Rosie, Noorani, Sadia, Murng, Sai, Santra, Saikat, Westbury, Sarah, Nejentsev, Sergey, Othman, Shokri, Savic, Sinisa, Papadia, Sofia, Ashford, Sofie, Park, Soo-Mi, Jolles, Stephen, Meacham, Stuart, Rankin, Stuart, Seneviratne, Suranjith, Kuijpers, Taco W, Everington, Tamara, Cookson, Victoria, Qasim, Waseem, Ouwehand, Willem H, Lynch, Andy G

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    Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension von Hernandez-Sanchez, Jules, Martin, Jennifer, Bogaard, Harm, Church, Colin, Coghlan, Gerry, Condliffe, Robin, Gibbs, Simon, Humbert, Marc, Kiely, David G, Lawrie, Allan, Peacock, Andrew, Shamardina, Olga, Southgate, Laura, Morrell, Nicholas W, Aitman, Timothy, Bennett, David, Koziell, Ania, Ouwehand, Willem H, Perry, David, Raymond, F Lucy, Thrasher, Adrian, Fletcher, Debra, Penkett, Christopher J, Veltman, Marijke, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Frary, Amy, Rehnstrom, Karola, Austin, Steve, Bariana, Tadbir K, Collins, Peter, Erber, Wendy N, Favier, Remi, Furie, Bruce, Gattens, Michael, Gomez, Keith, Hart, Daniel, Kelly, Anne M, Lambert, Michele P, Lentaigne, Claire, Mathias, Mary, Payne, Jeanette, Pasi, John, Peerlinck, Kathelijne, Roughley, Catherine, Sivapalaratnam, Suthesh, Talks, Kate, Thachil, Jecko, Turro, Ernest, Van Geet, Chris, De Vries, Minka, Warner, Timothy Q, Attwood, Antony, Daugherty, Louise, Megy, Karyn, Tuna, Salih, Lango-Allen, Hana, Richardson, Sylvia, Rankin, Stuart, McJannet, Coleen, Vogt, Julie, Maw, Anna, Armstrong, Ruth, Mehta, Sarju, Carmichael, Jenny, Allen, Louise, Firth, Helen, Doffinger, Rainer, Parker, Alasdair, Lees, Melissa, Gissen, Paul, Josifova, Dragana, Thomas, Ellen, Patch, Chris, Deshpande, Charu, Flinter, Frances, Wakeling, Emma, Brady, Angie, Clowes, Virginia, Moore, Anthony, Arno, Gavin, Grozeva, Detelina, Reid, Evan, Tischkowitz, Marc, Meehan, Sharon, Rue-Albrecht, Kevin, Chandra, Anita, Goddard, Sarah, Kelleher, Peter, Kumararatne, Dinakantha, Lear, Sara, Longhurst, Hilary, Lorenzo, Lorena, Maimaris, Jesmeen, McDermott, Elizabeth, Noorani, Sadia, Oksenhendler, Eric, Welch, Steve, Willcocks, Lisa

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    Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018) von Farmery, James H.R, Smith, Mike L, Lynch, Andy G, Huissoon, Aarnoud, Furnell, Abigail, Mead, Adam, Levine, Adam P, Manzur, Adnan, Thrasher, Adrian, Greenhalgh, Alan, Parker, Alasdair, Sanchis-Juan, Alba, Richter, Alex, Gardham, Alice, Lawrie, Allan, Sohal, Aman, Creaser-Myers, Amanda, Frary, Amy, Greinacher, Andreas, Themistocleous, Andreas, Peacock, Andrew J, Marshall, Andrew, Mumford, Andrew, Rice, Andrew, Webster, Andrew, Brady, Angie, Koziell, Ania, Manson, Ania, Chandra, Anita, Hensiek, Anke, in't Veld, Anna Huis, Maw, Anna, Kelly, Anne M, Moore, Anthony, Noordegraaf, Anton Vonk, Attwood, Antony, Herwadkar, Archana, Ghofrani, Ardi, Houweling, Arjan C, Girerd, Barbara, Furie, Bruce, Treacy, Carmen M, Millar, Carolyn M, Sewell, Carrock, Roughley, Catherine, Titterton, Catherine, Williamson, Catherine, Hadinnapola, Charaka, Deshpande, Charu, Toh, Cheng-Hock, Bacchelli, Chiara, Patch, Chris, Van Geet, Chris, Babbs, Christian, Bryson, Christine, Penkett, Christopher J, Rhodes, Christopher J, Watt, Christopher, Bethune, Claire, Booth, Claire, Lentaigne, Claire, McJannet, Coleen, Church, Colin, French, Courtney, Samarghitean, Crina, Halmagyi, Csaba, Gale, Daniel, Greene, Daniel, Hart, Daniel, Allsup, David, Bennett, David, Edgar, David, Kiely, David G, Gosal, David, Perry, David J, Keeling, David, Montani, David, Shipley, Debbie, Whitehorn, Deborah, Fletcher, Debra, Krishnakumar, Deepa, Grozeva, Detelina, Kumararatne, Dinakantha, Thompson, Dorothy, Josifova, Dragana, Maher, Eamonn, Wong, Edwin K.S, Murphy, Elaine, Dewhurst, Eleanor, Louka, Eleni, Rosser, Elisabeth, Chalmers, Elizabeth, Colby, Elizabeth, Drewe, Elizabeth, McDermott, Elizabeth, Thomas, Ellen, Staples, Emily, Clement, Emma, Matthews, Emma, Wakeling, Emma

    Veröffentlicht in SCIENTIFIC REPORTS

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