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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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    KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation von Cif, Laura, Demailly, Diane, Lin, Jean-Pierre, Barwick, Katy E, Sa, Mario, Abela, Lucia, Malhotra, Sony, Chong, Wui K, Steel, Dora, Sanchis-Juan, Alba, Ngoh, Adeline, Trump, Natalie, Meyer, Esther, Vasques, Xavier, Rankin, Julia, Allain, Meredith W, Applegate, Carolyn D, Attaripour Isfahani, Sanaz, Baleine, Julien, Balint, Bettina, Bassetti, Jennifer A, Baple, Emma L, Bhatia, Kailash P, Blanchet, Catherine, Burglen, Lydie, Cambonie, Gilles, Seng, Emilie Chan, Bastaraud, Sandra Chantot, Cyprien, Fabienne, Coubes, Christine, d'Hardemare, Vincent, Doja, Asif, Dorison, Nathalie, Doummar, Diane, Dy-Hollins, Marisela E, Farrelly, Ellyn, Fitzpatrick, David R, Fearon, Conor, Fieg, Elizabeth L, Fogel, Brent L, Forman, Eva B, Fox, Rachel G, Gahl, William A, Galosi, Serena, Gonzalez, Victoria, Graves, Tracey D, Gregory, Allison, Hallett, Mark, Hasegawa, Harutomo, Hayflick, Susan J, Hamosh, Ada, Hully, Marie, Jansen, Sandra, Jeong, Suh Young, Krier, Joel B, Krystal, Sidney, Kumar, Kishore R, Laurencin, Chloé, Lee, Hane, Lesca, Gaetan, François, Laurence Lion, Lynch, Timothy, Mahant, Neil, Martinez-Agosto, Julian A, Milesi, Christophe, Mills, Kelly A, Mondain, Michel, Morales-Briceno, Hugo, Ostergaard, John R, Pal, Swasti, Pallais, Juan C, Pavillard, Frédérique, Perrigault, Pierre-Francois, Petersen, Andrea K, Polo, Gustavo, Poulen, Gaetan, Rinne, Tuula, Roujeau, Thomas, Rogers, Caleb, Roubertie, Agathe, Sahagian, Michelle, Schaefer, Elise, Selim, Laila, Selway, Richard, Sharma, Nutan, Signer, Rebecca, Soldatos, Ariane G, Stevenson, David A, Stewart, Fiona, Tchan, Michel, Verma, Ishwar C, de Vries, Bert B A, Wilson, Jenny L, Wong, Derek A, Zaitoun, Raghda, Zhen, Dolly, Znaczko, Anna, Dale, Russell C, de Gusmão, Claudio M, Friedman, Jennifer

    Veröffentlicht in Brain (London, England : 1878)

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