ION MOBILITY DETECTOR von SICKENBERGER, DAVID WAYNE, SIMA, GORDON RUSSELL JR, BROWNING, DAVID RANKIN, SCHMIDT, JOHN CALVIN

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ION MOBILITY DETECTOR von SICKENBERGER, DAVID WAYNE, SIMA, GORDON RUSSELL JR, BROWNING, DAVID RANKIN, SCHMIDT, JOHN CALVIN

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Ion mobility detector von SICKENBERGER, DAVID WAYNE, SIMA, GORDON RUSSELL JR, BROWNING, DAVID RANKIN, SCHMIDT, JOHN CALVIN

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Whole-genome sequencing of patients with rare diseases in a national health system von 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, Deevi, Sri V. V., 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. A., 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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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease von Stephens, Jonathan, Dewhurst, Eleanor, Malka, Samantha, Plagnol, Vincent, Rizzo, Roberta, Scott, Richard H., Henderson, Robert H.H., MacLaren, Robert E., Paterson, Joan, Aitman, Timothy, Ali, Sonia, Ambegaonkar, Gautum, Arno, Gavin, Astle, William, Attwood, Antony, Bennett, David, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Carss, Keren, Clements-Brod, Naomi, DaCosta, Rosa, De Vries, Minka, Dewhurst, Eleanor, Drewe, Elizabeth, Egner, William, Erber, Wendy N., Everington, Tamara, Fletcher, Debra, Freson, Kathleen, Gale, Daniel, Ghali, Neeti, Ghurye, Rohit, Gräf, Stefan, Greene, Daniel, Grigoriadou, Sofia, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Hammerton, Tracey, Heemskerk, Johan W.M., Holder, Muriel, Holder, Susan, Huissoon, Aarnoud, Hurst, Jane, Jolles, Stephen, Keeling, David, Kennedy, Fiona, Kiely, David, Lawrie, Allan, Lear, Sara, Lees, Melissa, Lentaigne, Claire, Lorenzo, Lorena, Mangles, Sarah, Mapeta, Rutendo, Masati, Larahmie, Mathias, Mary, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Murng, Sai, Oksenhendler, Eric, Park, Soo-Mi, Patch, Chris, Paterson, Joan, Penkett, Christopher J., Pepke-Zaba, Joanna, Pollock, Val, Qasim, Waseem, Quinti, Isabella, Reid, Evan, Rondina, Matthew, Rosser, Elisabeth, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Scully, Marie, Sewell, Carrock, Smith, Kenneth, Southgate, Laura, Stauss, Hans, Stein, Penelope, Talks, Kate, Thomas, Ellen, Thrasher, Adrian, Tischkowitz, Marc, Titterton, Catherine, Turro, Ernest, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wakeling, Emma, Wanjiku, Ivy, Welch, Steve, Westbury, Sarah, Woods, Geoffrey, Yong, Patrick, Webster, Andrew R.

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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 Farmery, James H. R., Smith, Mike L., Lynch, Andy G.

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Whole-genome sequencing of patients with rare diseases in a national health system von 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

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Whole-genome sequencing of patients with rare diseases in a national health system von 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

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Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration von Arno, Gavin, Zihni, Ceniz, Robson, Anthony G., Fiorentino, Alessia, Black, Graeme, Ponitkos, Nikos, Holder, Graham E., Aitman, Timothy, Alachkar, Hana, Allsup, David, Anderson, Julie, Armstrong, Ruth, Arumugakani, Gururaj, Ashford, Sofie, Bakchoul, Tamam, Bariana, Tadbir K., Bibi, Shahnaz, Bitner-Glindzicz, Maria, Bolton-Maggs, Paula, Brady, Angie, Brown, Matthew, Caulfield, Mark, Chitre, Manali, Clowes, Virginia, Coghlan, Gerry, Collins, Peter, Creaser-Myers, Amanda, DaCosta, Rosa, Davies, Sophie, Deegan, Patrick, Deshpande, Charu, Doffinger, Rainer, Egner, William, Erwood, Marie, Favier, Remi, Flinter, Frances, Furie, Bruce, Furnell, Abigail, Gardham, Alice, Gattens, Michael, Ghataorhe, Pavandeep K., Gibbs, Simon, Gilmour, Kimberley, Gissen, Paul, Goddard, Sarah, Gordins, Pavel, Greinacher, Andreas, Grigoriadou, Sofia, Hayman, Grant, Henderson, Robert, Henskens, Yvonne, Holden, Simon, Hu, Fengyuan, Jolles, Stephen, Josifova, Dragana, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kuijpers, Taco W., Kumararatne, Dinakantha, Kurian, Manju, Laffan, Michael A., Linger, Rachel, Machado, Rajiv, Manson, Ania, Markus, Hugh S., Meehan, Sharon, Ouwehand, Willem H., Park, Soo-Mi, Parker, Alasdair, Paterson, Joan, Peerlinck, Kathelijne, Perry, David J., Qasim, Waseem, Rankin, Julia, Rehnstrom, Karola, Roberts, Irene, Roughley, Catherine, Rue-Albrecht, Kevin, Schulze, Harald, Shamardina, Olga, Shipley, Debbie, Simeoni, Ilenia, Stephens, Jonathan, Suntharalingam, Jay, Thachil, Jecko, Thaventhiran, James, Thomas, Ellen, Titterton, Catherine, Toh, Cheng-Hock, Turek, Wojciech, Turro, Ernest, Van Geet, Chris, Wakeling, Emma, Warner, Timothy Q., Webster, Andrew, Wilkins, Martin, Young, Tim, Yu, Ping, Webster, Andrew R.

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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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