Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis

Por Scarpelli, Mauro, Russignan, Anna, Zombor, Melinda, Bereczki, Csaba, Zappini, Francesca, Buono, Romina, Bax, Bridget E., Padovani, Alessandro, Tonin, Paola, Filosto, Massimiliano
Publicado em 2012

Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders

Por Kovács, Gábor, Kalmár, Tibor, Endreffy, Emőke, Ondrik, Zoltán, Iványi, Béla, Rikker, Csaba, Haszon, Ibolya, Túri, Sándor, Sinkó, Mária, Bereczki, Csaba, Maróti, Zoltán
Publicado no PLoS One (2016)

Increased duodenal expression of miR-146a and -155 in pediatric Crohn’s disease

Por Szűcs, Dániel, Béres, Nóra Judit, Rokonay, Réka, Boros, Kriszta, Borka, Katalin, Kiss, Zoltán, Arató, András, Szabó, Attila J, Vannay, Ádám, Sziksz, Erna, Bereczki, Csaba, Veres, Gábor
Publicado no World J Gastroenterol (2016)

The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε

Por Azukaitis, Karolis, Simkova, Eva, Majid, Mohammad Abdul, Galiano, Matthias, Benz, Kerstin, Amann, Kerstin, Bockmeyer, Clemens, Gajjar, Radha, Meyers, Kevin E., Cheong, Hae Il, Lange-Sperandio, Bärbel, Jungraithmayr, Therese, Frémeaux-Bacchi, Véronique, Bergmann, Carsten, Bereczki, Csaba, Miklaszewska, Monika, Csuka, Dorottya, Prohászka, Zoltán, Gipson, Patrick, Sampson, Matthew G., Lemaire, Mathieu, Schaefer, Franz
Publicado no J Am Soc Nephrol (2017)