Rezultati - Vajsar, Jiri

Walker-Warburg syndrome od Vajsar, Jiri, Schachter, Harry

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Paediatric myasthenia: A moving target od Kolski, Hanna, Vajsar, Jiri, Grenier, Danielle

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Naturally Occurring Mutations at the Acetylcholine Receptor Binding Site Independently Alter ACh Binding and Channel Gating od Sine, Steven M., Shen, Xing-Ming, Wang, Hai-Long, Ohno, Kinji, Lee, Won-Yong, Tsujino, Akira, Brengmann, Joan, Bren, Nina, Vajsar, Jiri, Engel, Andrew G.

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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome od Willer, Tobias, Lee, Hane, Lommel, Mark, Yoshida-Moriguchi, Takako, de Bernabe, Daniel Beltran Valero, Venzke, David, Cirak, Sebahattin, Schachter, Harry, Vajsar, Jiri, Voit, Thomas, Muntoni, Francesco, Loder, Andrea S., Dobyns, William B., Winder, Thomas L., Strahl, Sabine, Mathews, Katherine D., Nelson, Stanley F., Moore, Steven A., Campbell, Kevin P.

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Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly od Jerber, Julie, Zaki, Maha S., Al-Aama, Jumana Y., Rosti, Rasim Ozgur, Ben-Omran, Tawfeg, Dikoglu, Esra, Silhavy, Jennifer L., Caglar, Caner, Musaev, Damir, Albrecht, Beate, Campbell, Kevin P., Willer, Tobias, Almuriekhi, Mariam, Çağlayan, Ahmet Okay, Vajsar, Jiri, Bilgüvar, Kaya, Ogur, Gonul, Abou Jamra, Rami, Günel, Murat, Gleeson, Joseph G.

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Consensus Statement on Standard of Care for Congenital Muscular Dystrophies od Wang, Ching H., Bonnemann, Carsten G., Rutkowski, Anne, Sejersen, Thomas, Bellini, Jonathan, Battista, Vanessa, Florence, Julaine M., Schara, Ulrike, Schuler, Pamela M., Wahbi, Karim, Aloysius, Annie, Bash, Robert O., Béroud, Christophe, Bertini, Enrico, Bushby, Kate, Cohn, Ronald D., Connolly, Anne M., Deconinck, Nicolas, Desguerre, Isabelle, Eagle, Michelle, Estournet-Mathiaud, Brigitte, Ferreiro, Ana, Fujak, Albert, Goemans, Nathalie, Iannaccone, Susan T., Jouinot, Patricia, Main, Marion, Melacini, Paola, Mueller-Felber, Wolfgang, Muntoni, Francesco, Nelson, Leslie L., Rahbek, Jes, Quijano-Roy, Susana, Sewry, Caroline, Storhaug, Kari, Simonds, Anita, Tseng, Brian, Vajsar, Jiri, Vianello, Andrea, Zeller, Reinhard

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A National Spinal Muscular Atrophy Registry for Real-World Evidence od Hodgkinson, Victoria L., Oskoui, Maryam, Lounsberry, Joshua, M’Dahoma, Saïd, Butler, Emily, Campbell, Craig, MacKenzie, Alex, McMillan, Hugh J., Simard, Louise, Vajsar, Jiri, Brais, Bernard, Chapman, Kristine M., Chrestian, Nicolas, Crone, Meghan, Dobrowolski, Peter, Dojeiji, Susan, Dowling, James J., Dupré, Nicolas, Genge, Angela, Gonorazky, Hernan, Hasal, Simona, Izenberg, Aaron, Johnston, Wendy, Leung, Edward, Lochmüller, Hanns, Mah, Jean K., Marerro, Alier, Massie, Rami, McAdam, Laura, McCormick, Anna, Melanson, Michel, Mezei, Michelle M., Nguyen, Cam-Tu E., O’Connell, Colleen, O’Ferrall, Erin K., Pfeffer, Gerald, Phan, Cecile, Plamondon, Stephanie, Poulin, Chantal, Rodrigue, Xavier, Schellenberg, Kerri L., Selby, Kathy, Sheriko, Jordan, Shoesmith, Christen, Smith, Garth, Taillon, Monique, Taylor, Sean, Warman Chardon, Jodi, Worley, Scott, Korngut, Lawrence

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