Showing 1 - 20 results of 21 for search '"Kremlikova Pourova, Radka"', query time: 3.11s Refine Results  

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

by Ebrahimi-Fakhari, Darius, Teinert, Julian, Behne, Robert, Wimmer, Miriam, D'Amore, Angelica, Eberhardt, Kathrin, Brechmann, Barbara, Ziegler, Marvin, Jensen, Dana M, Nagabhyrava, Premsai, Geisel, Gregory, Carmody, Erin, Shamshad, Uzma, Dies, Kira A, Yuskaitis, Christopher J, Salussolia, Catherine L, Ebrahimi-Fakhari, Daniel, Pearson, Toni S, Saffari, Afshin, Ziegler, Andreas, Kölker, Stefan, Volkmann, Jens, Wiesener, Antje, Bearden, David R, Lakhani, Shenela, Segal, Devorah, Udwadia-Hegde, Anaita, Martinuzzi, Andrea, Hirst, Jennifer, Perlman, Seth, Takiyama, Yoshihisa, Xiromerisiou, Georgia, Vill, Katharina, Walker, William O, Shukla, Anju, Dubey Gupta, Rachana, Dahl, Niklas, Aksoy, Ayse, Verhelst, Helene, Delgado, Mauricio R, Kremlikova Pourova, Radka, Sadek, Abdelrahim A, Elkhateeb, Nour M, Blumkin, Lubov, Brea-Fernández, Alejandro J, Dacruz-Álvarez, David, Smol, Thomas, Ghoumid, Jamal, Miguel, Diego, Heine, Constanze, Schlump, Jan-Ulrich, Langen, Hendrik, Baets, Jonathan, Bulk, Saskia, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C, Lim-Melia, Elizabeth, Aydinli, Nur, Alanay, Yasemin, El-Rashidy, Omnia, Nampoothiri, Sheela, Patel, Chirag, Beetz, Christian, Bauer, Peter, Yoon, Grace, Guillot, Mireille, Miller, Steven P, Bourinaris, Thomas, Houlden, Henry, Robelin, Laura, Anheim, Mathieu, Alamri, Abdullah S, Mahmoud, Adel A H, Inaloo, Soroor, Habibzadeh, Parham, Faghihi, Mohammad Ali, Jansen, Anna C, Brock, Stefanie, Roubertie, Agathe, Darras, Basil T, Agrawal, Pankaj B, Santorelli, Filippo M, Gleeson, Joseph, Zaki, Maha S, Sheikh, Sarah I, Bennett, James T, Sahin, Mustafa
Published in Brain (London, England : 1878) (01.10.2020)

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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

by Li, Dong, Battig, Mark R, Bosch, Daniëlle Gm, van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K, Pérez-Jurado, Luis A, Aznar-Laín, Gemma, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Kremlikova Pourova, Radka, Sedlacek, Zdenek, Keena, Beth A, March, Michael E, Hou, Cuiping, O'Connor, Nora, Harr, Margaret H, Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Wright, Meredith, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Byler, Melissa, Balci, Tugce B, Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M, Martinez-Agosto, Julian A, Rabani, Ahna M, Falk, Marni J, Ruggiero, Sarah M, Helbig, Ingo, Møller, Rikke S, Krawitz, Peter M, Ganapathi, Mythily, Gelb, Bruce D, Wilson, Ashley, Jizi, Khadijé, Quelin, Chloé, Chick, Erika, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna Ce, Thompson, Michelle L, Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C, Shashi, Vandana, Cordeiro, Dawn, Carnevale, Amanda, Funalot, Benoît, Tran Mau-Them, Frederic, Fernandez Garcia Moya, Luis, Chad, Lauren, Li, Chumei, Sanchez-Valle, Amarilis, Sulem, Patrick, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Hadj Habdallah, Hamza, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Pfundt, Rolph, de Vries, Bert Ba, van Slegtenhorst, Marjon A, Brooks, Alice S, Cogne, Benjamin, Zackai, Elaine H, Song, Yuanquan, Hakonarson, Hakon
Published in The Journal of clinical investigation (01.01.2024)

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Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

by Timmann, Dagmar, Dürr, Alexandra, Haack, Tobias, Hengel, Holger, Horvath, Rita, Houlden, Henry, Kamsteeg, Erik-Jan, Macaya, Alfons, Maver, Ales, Molnar, Judit, Münchau, Alexander, Peterlin, Borut, Riess, Olaf, Schöls, Ludger, Stevanin, Giovanni, Vandrovcova, Jana, Matalonga, Leslie, Synofzik, Matthis, Ellwanger, Kornelia, Sturm, Marc, Heutink, Peter, Hoischen, Alexander, Vissers, Lisenka E. L. M., Steyaert, Wouter, de Voer, Richarda M., Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Gibson, Spencer, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Thauvin, Christel, Denommé-Pichon, Anne-Sophie, Tisserant, Emilie, Bruel, Ange-Line, Pélissier, Aurore, Gut, Ivo Glynne, Laurie, Steven, Bullich, Gemma, Garcia, Carles, Paramonov, Ida, Gumus, Gulcin, Rath, Ana, Olry, Annie, Heinzmann, Anna, Evangelista, Teresinha, Allamand, Valérie, Yaou, Rabah Ben, Eymard, Bruno, Stojkovic, Tanya, Macek, Milan, Kremliková, Radka Pourová, Franková, Vera, Kremlik, Vlastimil, Parkinson, Helen, Keane, Thomas, Spalding, Dylan, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Reilly, Mary, Muntoni, Francesco, de Jonghe, Peter, Piluso, Giulio, Selvatici, Rita, Neri, Marcella, Matos, Ana Rita, Ferreira, Marta, Garrido, Luzia, Ferreira, Pedro, Swertz, Morris A., Roelofs-Prins, Dieuwke, Köhler, Sebastian, Metcalfe, Alison, Rooryck, Caroline, Trimouille, Aurelien, Castello, Raffaele, Morleo, Manuela, Varavallo, Alessandra, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, de la Rosa, F. Javier Alonso García, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Benetti, Elisa, Herzog, Rebecca, Thompson, Rachel, Beeson, David, Cossins, Judith, Savarese, Marco, Capella, Gabriel, Holinski-Feder, Elke, Laner, Andreas, Schröck, Evelin
Published in European journal of human genetics : EJHG (01.09.2021)

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