תוצאות חיפוש - Vajsar, Jiri

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

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Paediatric myasthenia: A moving target מאת 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 מאת 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 מאת 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 מאת 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 מאת 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 מאת 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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