Bacteriophage recombineering in the lytic state using the lambda red recombinases

por Fehér, Tamás, Karcagi, Ildikó, Blattner, Frederick R., Pósfai, György
Publicado 2012

Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure

por Beke, Artur, Piko, Henriett, Haltrich, Iren, Csomor, Judit, Matolcsy, Andras, Fekete, György, Rigo, Janos, Karcagi, Veronika
Publicado 2013

A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome

por Haltrich, Irén, Pikó, Henriett, Kiss, Eszter, Tóth, Zsuzsa, Karcagi, Veronika, Fekete, György
Publicado 2014

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

por 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
Publicado 2014

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

por 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
Publicado 2015

Complex X chromosome rearrangement associated with multiorgan autoimmunity

por Haltrich, Irén, Pikó, Henriett, Pamjav, Horolma, Somogyi, Anikó, Völgyi, Antónia, David, Dezső, Beke, Artúr, Garamvölgyi, Zoltán, Kiss, Eszter, Karcagi, Veronika, Fekete, György
Publicado 2015

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

por 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
Publicado 2015

Behr’s Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

por 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
Publicado 2014

Respiratory chain deficiency in nonmitochondrial disease

por 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
Publicado 2015

European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences

por 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
Publicado 2016

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

por 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
Publicado 2017

Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations

por Beke, Artur, Piko, Henriett, Haltrich, Iren, Karcagi, Veronika, Rigo, Janos, Molnar, Maria Judit, Fekete, György
Publicado 2018

Exploring the fitness benefits of genome reduction in Escherichia coli by a selection-driven approach

por Vernyik, Viktor, Karcagi, Ildikó, Tímár, Edit, Nagy, István, Györkei, Ádám, Papp, Balázs, Györfy, Zsuzsanna, Pósfai, György
Publicado 2020

Deuterium-depletion has no significant impact on the mutation rate of Escherichia coli, deuterium abundance therefore has a probabilistic, not deterministic effect on spontaneous m...

por Ajibola, Walliyulahi, Karcagi, Ildikó, Somlyai, Gábor, Somlyai, Ildikó, Fehér, Tamás
Publicado 2021

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa

por 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
Publicado 2021

Investigation of the relationship between incidence of mental disorders and economic growth among the Visegrad countries

por Szőllősi, Gergő József, Boruzs, Klára, Karcagi-Kováts, Andrea, Kalas, Nándor, Bányai, Gábor, Bíró, Klára
Publicado 2022

GA-Responsive Dwarfing Gene Rht12 Affects the Developmental and Agronomic Traits in Common Bread Wheat

por Chen, Liang, Phillips, Andrew L., Condon, Anthony G., Parry, Martin A. J., Hu, Yin-Gang
Publicado 2013

Exogenous GA3 Application Can Compensate the Morphogenetic Effects of the GA-Responsive Dwarfing Gene Rht12 in Bread Wheat

por Chen, Liang, Hao, Liugen, Condon, Anthony G., Hu, Yin-Gang
Publicado 2014

The Photoperiod-Insensitive Allele Ppd-D1a Promotes Earlier Flowering in Rht12 Dwarf Plants of Bread Wheat

por Chen, Liang, Du, Yingying, Lu, Qiumei, Chen, Hua, Meng, Ruishuang, Cui, Chunge, Lu, Shan, Yang, Yang, Chai, Yongmao, Li, Juan, Liu, Lulu, Qi, Xiangning, Li, Hang, Mishina, Kohei, Yu, Fei, Hu, Yin-Gang
Publicado 2018