المؤلفون: Neves, Renata, De Dios Perez, Blanca, Panek, Rafal, Jagani, Sumit, Wilne, Sophie, Bhatt, Jayesh, Caputi, Caterina, Cirillo, Emilia, Coman, David, Dückers, Gregor, Gilbert, Donald, Kay Koenig, Mary, Mansour, Lobna, McDermott, Elizabeth, Pauni, Micaela, Pignata, Claudio, Perlman, Susan, Porras, Oscar, Betina Porto, Mariela, Schon, Katherine, Soler-Palacin, Pere, Nick Russo, Sam, Takagi, Masatoshi, Tischkowitz, Marc, Wainwright, Claire, Dandapani, Madhumita, Glazebrook, Cristine, Suri, Mohnish, Whitehouse, William, Dineen, Robert

المصدر: Cancer Medicine. 12(13)

مصطلحات موضوعية: ataxia telangiectasia, cancer predisposition, cancer surveillance, guidelines, international survey, life-limiting disease, Adult, Child, Humans, Ataxia Telangiectasia, Consensus, Delphi Technique, Neoplasms, Surveys and Questionnaires

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2p44h08n

المؤلفون: Kaspi, Antony^{Aff1, Aff2}, Hildebrand, Michael S.^{Aff2, Aff3}, Jackson, Victoria E.^{Aff1, Aff2}, Braden, Ruth, van Reyk, Olivia, Howell, Tegan, Debono, Simone, Lauretta, Mariana, Morison, Lottie, Coleman, Matthew J.^{Aff2, Aff3}, Webster, Richard, Coman, David^{Aff5, Aff6}, Goel, Himanshu, Wallis, Mathew^{Aff8, Aff9}, Dabscheck, Gabriel^{Aff2, Aff10}, Downie, Lilian^{Aff2, Aff10}, Baker, Emma K.^{Aff2, Aff3}, Parry-Fielder, Bronwyn, Ballard, Kirrie, Harrold, Eva, Ziegenfusz, Shaun, Bennett, Mark F.^{Aff1, Aff2}, Robertson, Erandee^{Aff1, Aff2}, Wang, Longfei^{Aff1, Aff2}, Boys, Amber, Fisher, Simon E.^{Aff14, Aff15}, Amor, David J.^{Aff2, Aff3, Aff10}, Scheffer, Ingrid E., Bahlo, Melanie^{Aff1, Aff2}, Morgan, Angela T.^{Aff2, Aff3, Aff6, Aff10, IDs41380022017648_cor30}

المصدر: Molecular Psychiatry. 28(4):1647-1663

المؤلفون: Demetriou, Kalliope, Nisbet, Janelle, Coman, David, Ewing, Adam D., Phillips, Liza, Smith, Sally, Lipke, Michelle, Inwood, Anita, Spicer, Janette, Atthow, Catherine, Wilgen, Urs, Robertson, Thomas, McWhinney, Avis, Swenson, Rebecca, Espley, Brayden, Snowdon, Brianna, McGill, James J., Summers, Kim M.

المصدر: In Molecular Genetics and Metabolism August 2024 142(4)

المؤلفون: Bernhardt, Isaac, Frajman, Leah E., Ryder, Bryony, Andersen, Erik, Wilson, Callum, McKeown, Colina, Anderson, Tim, Coman, David, Vincent, Andrea L., Buchanan, Christina, Roxburgh, Richard, Pitt, James, De Hora, Mark, Christodoulou, John, Thorburn, David R., Wilson, Francessa, Drake, Kylie M., Leask, Megan, Yardley, Anne-Marie, Merriman, Tony, Robertson, Stephen, Compton, Alison G., Glamuzina, Emma

المصدر: In Molecular Genetics and Metabolism July 2024 142(3)

المؤلفون: Agrawal, Pankaj, Armstrong Scott, Daryl, Barkoudah, Elizabeth, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark, Clement, Emma, Coman, David, Costin, Carrie, Devriendt, Koen, Dong, Dexin, Dries, Annika, Duelund Hjortshøj, Tina, Dyment, David, Eng, Christine, Genetti, Casie, Grano, Siera, Henneman, Peter, Heron, Delphine, Hoffmann, Katrin, Hom, Jason, Du, Haowei, Iascone, Maria, Isidor, Bertrand, Järvelä, Irma E., Jones, Julie, Keren, Boris, Koenig, Mary Kay, Kohlhase, Jürgen, Lalani, Seema, Le Caignec, Cedric, Lewis, Andi, Liu, Pengfei, Lovgren, Alysia, Lupski, James R., Lyons, Mike, Lysy, Philippe, Manning, Melanie, Marcelis, Carlo, McLean, Scott Douglas, Mercie, Sandra, Mertens, Mareike, Molin, Arnaud, Nizon, Mathilde, Nugent, Kimberly Margaret, Öhman, Susanna, O'Leary, Melanie, Okashah Littlejohn, Rebecca, Petit, Florence, Pfundt, Rolph, Pottocki, Lorraine, Raas-Rotschild, Annick, Ranguin, Kara, Revencu, Nicole, Rosenfeld, Jill, Rhodes, Lindsay, Santos Simmaro, Fernando, Sals, Karen, Schieving, Jolanda, Schrauwen, Isabelle, Schuurs-Hoeijmakers, Janneke H.M., Seaby, Eleanor G., Sheffer, Ruth, Snijders Blok, Lot, Sørensen, Kristina P., Srivastava, Siddharth, Stark, Zornitza, Stoeva, Radka, Stutterd, Chloe, Tan, Natalie B., Mathiesen Torring, Pernille, Vanakker, Olivier, van der Laan, Liselot, Ververi, Athina, Villavicencio-Lorini, Pablo, Vincent, Marie, Wand, Dorothea, Wessels, Marja, White, Sue, Wojcik, Monica H., Wu, Nan, Zhao, Sen, Pérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, María, Carels, Marieke, Dermaut, Bart, Sadikovic, Bekim, Menten, Björn, Yuan, Bo, Vergult, Sarah, Callewaert, Bert

المصدر: In The American Journal of Human Genetics 7 March 2024 111(3):509-528

المؤلفون: Kaspi, Antony^{Aff1, Aff2}, Hildebrand, Michael S.^{Aff2, Aff3}, Jackson, Victoria E.^{Aff1, Aff2}, Braden, Ruth, van Reyk, Olivia, Howell, Tegan, Debono, Simone, Lauretta, Mariana, Morison, Lottie, Coleman, Matthew J.^{Aff2, Aff3}, Webster, Richard, Coman, David^{Aff5, Aff6}, Goel, Himanshu, Wallis, Mathew^{Aff8, Aff9}, Dabscheck, Gabriel^{Aff2, Aff10}, Downie, Lilian^{Aff2, Aff10}, Baker, Emma K.^{Aff2, Aff3}, Parry-Fielder, Bronwyn, Ballard, Kirrie, Harrold, Eva, Ziegenfusz, Shaun, Bennett, Mark F.^{Aff1, Aff2}, Robertson, Erandee^{Aff1, Aff2}, Wang, Longfei^{Aff1, Aff2}, Boys, Amber, Fisher, Simon E.^{Aff14, Aff15}, Amor, David J.^{Aff2, Aff3, Aff10}, Scheffer, Ingrid E., Bahlo, Melanie^{Aff1, Aff2}, Morgan, Angela T.^{Aff2, Aff3, Aff6, Aff10, IDs4138002201879y_cor30}

المصدر: Molecular Psychiatry. 28(4):1664-1666

المؤلفون: Anderson, Erin, Aldridge, Melanie, Turner, Ross, Harraway, James, McManus, Sam, Stewart, Anna, Borzi, Peter^{Aff6, Aff7, Aff8}, Trnka, Peter^{Aff2, Aff8}, Burke, John^{Aff2, Aff8}, Coman, David^{Aff1, Aff7, Aff8, Aff9, Aff10, IDs00467022054218_cor10}

المصدر: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association. 37(10):2369-2374

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المؤلفون: Vogel, Georg F., Mozer-Glassberg, Yael, Landau, Yuval E., Schlieben, Lea D., Prokisch, Holger, Feichtinger, René G., Mayr, Johannes A., Brennenstuhl, Heiko, Schröter, Julian, Pechlaner, Agnes, Alkuraya, Fowzan S., Baker, Joshua J., Barcia, Giulia, Baric, Ivo, Braverman, Nancy, Burnyte, Birute, Christodoulou, John, Ciara, Elzbieta, Coman, David, Das, Anibh M., Darin, Niklas, Della Marina, Adela, Distelmaier, Felix, Eklund, Erik A., Ersoy, Melike, Fang, Weiyan, Gaignard, Pauline, Ganetzky, Rebecca D., Gonzales, Emmanuel, Howard, Caoimhe, Hughes, Joanne, Konstantopoulou, Vassiliki, Kose, Melis, Kerr, Marina, Khan, Aneal, Lenz, Dominic, McFarland, Robert, Margolis, Merav Gil, Morrison, Kevin, Müller, Thomas, Murayama, Kei, Nicastro, Emanuele, Pennisi, Alessandra, Peters, Heidi, Piekutowska-Abramczuk, Dorota, Rötig, Agnès, Santer, René, Scaglia, Fernando, Schiff, Manuel, Shagrani, Mohmmad, Sharrard, Mark, Soler-Alfonso, Claudia, Staufner, Christian, Storey, Imogen, Stormon, Michael, Taylor, Robert W., Thorburn, David R., Teles, Elisa Leao, Wang, Jian-She, Weghuber, Daniel, Wortmann, Saskia

المصدر: In Genetics in Medicine June 2023 25(6)

المؤلفون: Domingo, Deepti, Nawaz, Urwah, Corbett, Mark, Espinoza, Josh, Tatton-Brown, Katrina, Coman, David, Gecz, Jozef, Jolly, Lachlan, Wilkinson, Miles

المصدر: Human Molecular Genetics. 29(15)

مصطلحات موضوعية: Cell Line, Child, Preschool, Codon, Nonsense, Gene Regulatory Networks, Humans, Infant, Loss of Function Mutation, Male, Neurodevelopmental Disorders, Nonsense Mediated mRNA Decay, RNA Splicing, RNA, Messenger, RNA-Binding Proteins, Silent Mutation, Speech Disorders

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9ck6w1nj