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    Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome von Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Falcon Rodriguez, Liset, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., Lorenzo, Damaris N.

    Veröffentlicht in Nature genetics

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    Mortality and AIDS‐defining events among young people following transition from paediatric to adult HIV care in the UK von Foster, C, Hughes, Gwenda, Rait, Greta, Ijaz, Samreen, Rhodes, Tim, Porter, Kholoud, Rosenberg, William, Butler, Karina, Klein, Nigel, McMaster, Paddy, Prime, Katia, Shackley, Fiona, Kenny, Julia, Shingadia, Delane, Cook, Claire, Dobson, Donna, Thrasyvoulou, L, Hague, R, Price, V, Cardoso, A, Bamford, A, Shingadia, D, Dowie, M, Bandi, S, Percival, E, Eisenhut, M, Wren, L, Daniels, J, Williams, B, Cliffe, L, Freeman, H, Gordon, A, Rosie Hague, D, Brown, L, Greenberg, M, Benson, C, Ibberson, L, Tudor‐Williams, G, Kirkhope, N, Kenny, Julia, Evans, J, Yannoulias, A, Allan, Sris, Babiker, Abdel, Chadwick, David, Churchill, Duncan, Gazzard, Brian, Gilson, Richard, Hay, Phillip, Leen, Clifford, Martin, Fabiola, Mital, Dushyant, Nelson, Mark, Orkin, Chloe, Palfreeman, Adrian, Post, Frank, Ustianowski, Andy, Phillips, Andrew, Shidfar, Shaadi, Lynch, Janet, Tilbury, Stuart, Youssef, Elaney, Wood, Sue, Gleisner, Zachary, Babiker, Abdel, Dunn, David, Baillie, Kirsty, Gilson, Richard, Schwenk, Achim, Miller, Sheila, Johnson, Margaret, Youle, Mike, Lampe, Fiona, Smith, Colette, Hutchinson, Samantha, Weber, Jonathan, Leen, Clifford, Gompels, Mark, Allan, Sue, Lewszuk, Adam, Kemble, Christian, Martin, Fabiola, Allan, Sris, Harte, Andrew, Cumming, Shirley, Atkinson, Claire, Mital, Dushyant, Edgell, Veronica, Allen, Julie, Gunder, Ilise, Fox, Ashini, Gees, Howard, Box, Roberta, Hatton, Tom, Apoola, Ade, Connan, Zak, Gregory, Luke, Holding, Kathleen, Mistry, Trusha, Trevelion, Roy

    Veröffentlicht in HIV medicine

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