Sökresultat - Karcagi, Veronika

A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome av Haltrich, Irén, Pikó, Henriett, Kiss, Eszter, Tóth, Zsuzsa, Karcagi, Veronika, Fekete, György

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Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations av Beke, Artur, Piko, Henriett, Haltrich, Iren, Karcagi, Veronika, Rigo, Janos, Molnar, Maria Judit, Fekete, György

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Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure av Beke, Artur, Piko, Henriett, Haltrich, Iren, Csomor, Judit, Matolcsy, Andras, Fekete, György, Rigo, Janos, Karcagi, Veronika

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Complex X chromosome rearrangement associated with multiorgan autoimmunity av Haltrich, Irén, Pikó, Henriett, Pamjav, Horolma, Somogyi, Anikó, Völgyi, Antónia, David, Dezső, Beke, Artúr, Garamvölgyi, Zoltán, Kiss, Eszter, Karcagi, Veronika, Fekete, György

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Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa av Vogt, Guido, El Choubassi, Naji, Herczegfalvi, Ágnes, Kölbel, Heike, Lekaj, Anja, Schara, Ulrike, Holtgrewe, Manuel, Krause, Sabine, Horvath, Rita, Schuelke, Markus, Hübner, Christoph, Mundlos, Stefan, Roos, Andreas, Lochmüller, Hanns, Karcagi, Veronika, Kornak, Uwe, Fischer‐Zirnsak, Björn

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Respiratory chain deficiency in nonmitochondrial disease av Pyle, Angela, Nightingale, Helen J., Griffin, Helen, Abicht, Angela, Kirschner, Janbernd, Baric, Ivo, Cuk, Mario, Douroudis, Konstantinos, Feder, Lea, Kratz, Markus, Czermin, Birgit, Kleinle, Stephanie, Santibanez-Koref, Mauro, Karcagi, Veronika, Holinski-Feder, Elke, Chinnery, Patrick F., Horvath, Rita

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Identification of an X-Chromosomal Locus and Haplotype Modulating the Phenotype of a Mitochondrial DNA Disorder av Hudson, Gavin, Keers, Sharon, Man, Patrick Yu Wai, Griffiths, Philip, Huoponen, Kirsi, Savontaus, Marja-Liisa, Nikoskelainen, Eeva, Zeviani, Massimo, Carrara, Franco, Horvath, Rita, Karcagi, Veronika, Spruijt, Liesbeth, Coo, I. F. M. de, Smeets, Hubert J. M., Chinnery, Patrick F.

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Mutation History of the Roma/Gypsies av Morar, Bharti, Gresham, David, Angelicheva, Dora, Tournev, Ivailo, Gooding, Rebecca, Guergueltcheva, Velina, Schmidt, Carolin, Abicht, Angela, Lochmüller, Hanns, Tordai, Attila, Kalmár, Lajos, Nagy, Melinda, Karcagi, Veronika, Jeanpierre, Marc, Herczegfalvi, Agnes, Beeson, David, Venkataraman, Viswanathan, Warwick Carter, Kim, Reeve, Jeff, de Pablo, Rosario, Kučinskas, Vaidutis, Kalaydjieva, Luba

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Behr’s Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene av Pyle, Angela, Ramesh, Venkateswaran, Bartsakoulia, Marina, Boczonadi, Veronika, Gomez-Duran, Aurora, Herczegfalvi, Agnes, Blakely, Emma L., Smertenko, Tania, Duff, Jennifer, Eglon, Gail, Moore, David, Yu-Wai-Man, Patrick, Douroudis, Konstantinos, Santibanez-Koref, Mauro, Griffin, Helen, Lochmüller, Hanns, Karcagi, Veronika, Taylor, Robert W., Chinnery, Patrick F., Horvath, Rita

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European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences av Vry, Julia, Gramsch, Kathrin, Rodger, Sunil, Thompson, Rachel, Steffensen, Birgit F., Rahbek, Jes, Doerken, Sam, Tassoni, Adrian, Beytía, María de los Angeles, Guergueltcheva, Velina, Chamova, Teodora, Tournev, Ivailo, Kostera-Pruszczyk, Anna, Kaminska, Anna, Lusakowska, Anna, Mrazova, Lenka, Pavlovska, Lenka, Strenkova, Jana, Vondráček, Petr, Garami, Marta, Karcagi, Veronika, Herczegfalvi, Ágnes, Bushby, Katherine, Lochmüller, Hanns, Kirschner, Janbernd

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EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia av Boczonadi, Veronika, Müller, Juliane S., Pyle, Angela, Munkley, Jennifer, Dor, Talya, Quartararo, Jade, Ferrero, Ileana, Karcagi, Veronika, Giunta, Michele, Polvikoski, Tuomo, Birchall, Daniel, Princzinger, Agota, Cinnamon, Yuval, Lützkendorf, Susanne, Piko, Henriett, Reza, Mojgan, Florez, Laura, Santibanez-Koref, Mauro, Griffin, Helen, Schuelke, Markus, Elpeleg, Orly, Kalaydjieva, Luba, Lochmüller, Hanns, Elliott, David J., Chinnery, Patrick F., Edvardson, Shimon, Horvath, Rita

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The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases av Mora, Marina, Angelini, Corrado, Bignami, Fabrizia, Bodin, Anne-Mary, Crimi, Marco, Di Donato, Jeanne- Hélène, Felice, Alex, Jaeger, Cécile, Karcagi, Veronika, LeCam, Yann, Lynn, Stephen, Meznaric, Marija, Moggio, Maurizio, Monaco, Lucia, Politano, Luisa, de la Paz, Manuel Posada, Saker, Safaa, Schneiderat, Peter, Ensini, Monica, Garavaglia, Barbara, Gurwitz, David, Johnson, Diana, Muntoni, Francesco, Puymirat, Jack, Reza, Mojgan, Voit, Thomas, Baldo, Chiara, Bricarelli, Franca Dagna, Goldwurm, Stefano, Merla, Giuseppe, Pegoraro, Elena, Renieri, Alessandra, Zatloukal, Kurt, Filocamo, Mirella, Lochmüller, Hanns

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The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations av Bladen, Catherine L, Salgado, David, Monges, Soledad, Foncuberta, Maria E, Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna J, Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lahdetie, Jaana, Walter, Maggie C, Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Kimura, En, Koeks, Zaïda, van den Bergen, Janneke C, Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Zimowski, Janusz, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Jeannet, Pierre-Yves, Joncourt, Franziska, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A Ayşe, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V, Martin, Ann S, Peay, Holly L, Bellgard, Matthew I, Kirschner, Jan, Flanigan, Kevin M, Straub, Volker, Bushby, Kate, Verschuuren, Jan, Aartsma-Rus, Annemieke, Béroud, Christophe, Lochmüller, Hanns

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Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database av Koeks, Zaïda, Bladen, Catherine L., Salgado, David, van Zwet, Erik, Pogoryelova, Oksana, McMacken, Grace, Monges, Soledad, Foncuberta, Maria E., Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Bellgard, Matthew I., Roy, Anna J., Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lähdetie, Jaana, Walter, Maggie C., Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Ferlini, Alessandra, Kimura, En, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Klein, Andrea, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A. Ayşe, Oznur, Tunca, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly L., Kirschner, Jan, Flanigan, Kevin M., Straub, Volker, Bushby, Kate, Béroud, Christophe, Verschuuren, Jan J., Lochmüller, Hanns

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