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    Congenital Titinopathy: Comprehensive characterization and pathogenic insights von Oates, Emily C., Jones, Kristi J., Donkervoort, Sandra, Charlton, Amanda, Brammah, Susan, Smith, John E., Ware, James S., Yau, Kyle S., Swanson, Lindsay C., Whiffin, Nicola, Peduto, Anthony J., Bournazos, Adam, Waddell, Leigh B., Farrar, Michelle A., Sampaio, Hugo A., Teoh, Hooi Ling, Lamont, Phillipa J., Mowat, David, Fitzsimons, Robin B., Corbett, Alastair J., Ryan, Monique M., O'Grady, Gina L., Sandaradura, Sarah A., Ghaoui, Roula, Joshi, Himanshu, Marshall, Jamie L., Nolan, Melinda A., Kaur, Simranpreet, Punetha, Jaya, Töpf, Ana, Harris, Elizabeth, Bakshi, Madhura, Genetti, Casie A., Marttila, Minttu, Werlauff, Ulla, Streichenberger, Nathalie, Pestronk, Alan, Mazanti, Ingrid, Pinner, Jason R., Vuillerot, Carole, Grosmann, Carla, Camacho, Ana, Mohassel, Payam, Leach, Meganne E., Foley, A. Reghan, Bharucha‐Goebel, Diana, Collins, James, Connolly, Anne M., Gilbreath, Heather R., Iannaccone, Susan T., Castro, Diana, Cummings, Beryl B., Webster, Richard I., Lazaro, Leïla, Vissing, John, Coppens, Sandra, Deconinck, Nicolas, Luk, Ho‐Ming, Thomas, Neil H., Foulds, Nicola C., Illingworth, Marjorie A., Ellard, Sian, McLean, Catriona A., Phadke, Rahul, Ravenscroft, Gianina, Witting, Nanna, Hackman, Peter, Richard, Isabelle, Cooper, Sandra T., Kamsteeg, Erik‐Jan, Hoffman, Eric P., Bushby, Kate, Straub, Volker, Udd, Bjarne, Ferreiro, Ana, North, Kathryn N., Clarke, Nigel F., Lek, Monkol, Beggs, Alan H., Bönnemann, Carsten G., MacArthur, Daniel G., Granzier, Henk, Davis, Mark R., Laing, Nigel G.

    Veröffentlicht in Annals of neurology

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    Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants von Bommireddipalli, Shobhana, Ades, Lesley, Archibald, Alison D., Berman, Yemima, Bojadzieva, Jasmina, Brown, Natasha J., Bryen, Samantha J., Engel, Amanda, Ewans, Lisa J., Fennell, Andrew, Freckmann, Mary-Louise, Gear, Russell, Goel, Himanshu, Goh, Shuxiang, Harraway, James, Higgins, Megan, Ho, Gladys, Hunter, Matthew F., Joshi, Himanshu, Krzesinski, Emma, Leventer, Richard J., Macaskill, Steven, McCarthy, Hugh J., McLean, Alison, Patel, Chirag, Regan, Matthew, Schindler, Tim, Tantsis, Esther, Tchan, Michel C., van Spaendonck-Zwarts, Karin, White, Susan M., Williams, Mark G., Wright, Dale C., Yap, Patrick, Yeung, Alison, Jones, Kristi J., Cooper, Sandra T., Arts, Peer, Barnett, Christopher, Beshay, Victoria, Blombery, Piers, Boggs, Kirsten, Branford, Susan, Bryen, Samantha J., Canson, Daffodil, Chew, Edward, Chong, Belinda, Chung, Seo-Kyung, Clark, Mike, Compton, Alison, Corbett, Mark, Davis, Mark R., Dudding, Tracy, Ewans, Lisa J., Eyras, Eduardo, Fellowes, Andrew, Field, Michael, Freckmann, Mary-Louise, Gaff, Clara, Galea, Melanie, Hanna, Bernadette, Harraway, James, Hayashi, Rippei, Henderson, Alex, Jackson, Matilda, Jones, Kristi J., Wong, Justin Jong-Leong, Joshi, Himanshu, Krzesinski, Emma, Kumble, Smitha, Laing, Nigel, Lau, Chiyan, Lee, Eric, Lundie, Ben, Mallawaarachchi, Amali, McLean, Alison, Meldrum, Cliff, Mina, Kym, Mowat, David, Oshlack, Alicia, Parsons, Michael, Patel, Chirag, Pinner, Jason R., Quinn, Michael, Ravenscroft, Gina, Regan, Matthew, Ronan, Anne, Sadedin, Simon, Schreiber, Andreas, Scott, Rodney, Simons, Cas, Smyth, Renee, Thompson, Bryony A., Thorburn, David, Trent, Ronald, Tudini, Emma, Wallis, Mathew, Wilson, Meredith J., Winship, Ingrid, Yeung, Alison

    Veröffentlicht in Genetics in medicine

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