検索結果 - Vajsar, Jiri

Walker-Warburg syndrome 著者: Vajsar, Jiri, Schachter, Harry

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Paediatric myasthenia: A moving target 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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 著者: 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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