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Items where Author is "Bene, Judit"
Group by: Item Type | No Grouping Jump to: Article Number of items: 21. ArticleBüki, Gergely and Till, Ágnes and Zsigmond, Anna and Bene, Judit and Hadzsiev, Kinga (2022) Neurofibromatosis-1 microdeletiós szindróma : Molekuláris genetika és klinikai heterogenitás. ORVOSI HETILAP, 163 (51). pp. 2041-2051. ISSN 0030-6002 Fekete, Anett and Hadzsiev, Kinga and Bene, Judit and Nászai, Antónia and Mátyás, Petra and Till, Ágnes and Melegh, Béla (2017) Két generációban megfigyelhető mitokondriális DNS A8344G mutáció | A8344G mitochondrial DNA mutation observed in two generations. Orvosi Hetilap, 158 (12). pp. 468-471. ISSN 0030-6002 Kövesdi, Erzsébet and Bene, Judit and Nagy, Nikoletta and Horváth, Ágnes and Melegh, Béla and Hadzsiev, Kinga (2017) A nagyobb méretű géndeletiók jelentősége a sclerosis tuberosa diagnosztikájában: az első magyar esetek bemutatása | Importance of gross deletions in the diagnosis of tuberous sclerosis complex: the first Hungarian cases. Orvosi Hetilap, 158 (30). pp. 1188-1194. ISSN 0030-6002 Bene, Judit and Hadzsiev, Kinga and Komlósi, Katalin and Kövesdi, Erzsébet and Mátyás, Petra and Melegh, Béla (2015) De novo SCN1A géndeletio terápiarezisztens Dravet-szindrómában. Orvosi Hetilap, 156 (49). pp. 2009-2012. ISSN 0030-6002 Hadzsiev, Kinga and Balikó, László and Komlósi, Katalin and Lőcsei-Fekete, Anett and Csábi, Györgyi and Bene, Judit and Kisfali, Péter and Melegh, Béla (2015) Genetic testing of hereditary spastic paraplegia. Orvosi Hetilap, 156 (3). pp. 113-117. ISSN 0030-6002 Hadzsiev, Kinga and Balikó, László and Komlósi, Katalin and Lőcsei-Fekete, Anett and Csábi, Györgyi and Bene, Judit and Kisfali, Péter and Melegh, Béla (2015) Herediter spasticus paraplegia genetikai vizsgálata. Orvosi Hetilap, 156 (3). pp. 113-117. ISSN 0030-6002 (print), 1788-6120 (online) Bene, Judit and Hadzsiev, Kinga and Komlósi, Katalin and Kövesdi, Erzsébet and Mátyás, Petra and Melegh, Béla (2015) De novo SCN1A géndeletio terápiarezisztens Dravet-szindrómában. Orvosi Hetilap, 156 (49). pp. 2009-2012. ISSN 0030-6002 Hadzsiev, Kinga and Balikó, László and Komlósi, Katalin and Lőcsei-Fekete, Anett and Csábi, Györgyi and Bene, Judit and Kisfali, Péter and Melegh, Béla (2015) Herediter spasticus paraplegia genetikai vizsgálata. Orvosi Hetilap, 156 (3). pp. 113-117. ISSN 0030-6002 Mutlu-Albayrak, Hatice and Bene, Judit and Burhan Oflaz, Mehmet and Tanyalçın, Tijen and Çaksen, Hüseyin and Melegh, Béla (2015) Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect. Case Reports in Genetics. Bene, Judit and Márton, Magdolna and Mohás, Márton and Bagosi, Zoltán and Bujtor, Zoltán and Oroszlán, Tamás and Gasztonyi, Beáta and Wittmann, István and Melegh, Béla (2013) Similarities in serum acylcarnitine patterns in Type 1 and Type2 diabetes mellitus and in metabolic syndrome. Annals of Nutrition and Metabolism, 62 (1). pp. 80-85. ISSN 0250-6807 ESSN 1421-9697 Lakner, Lilla and Csöngei, Veronika and Magyari, Lili and Varga, Márta and Miheller, Pál and Sarlós, Patrícia and Orosz, Péter and Bári, Zsolt and Takács, István and Járomi, Luca and Sáfrány, Enikő and Sipeky, Csilla and Bene, Judit and Tulassay, Zsolt and Döbrönte, Zoltán and Melegh, Béla (2009) Az 5q31 IBD5-régióban található IGR és SLC22A4/SLC22A5 variánsok lehetséges szerepe a gyulladásos bélbetegség kialakulásában = Possible role of selected IGR and SLC22A4/SLC22A5 loci in development of inflammatory bowel diseases. Orvosi Hetilap, 150 (29). pp. 1375-1380. ISSN 0030-6002 Magyari, Lili and Faragó, Bernadett and Bene, Judit and Horvatovich, Katalin and Lakner, Lilla and Varga, Márta and Figler, Mária and Gasztonyi, Beáta and Mózsik, Gyula and Melegh, Béla (2007) No association of the cytotoxic T-lymphocyte associated gene CTLA4 +49A/G polymorphisms with Crohn’s disease and ulcerative colitis in Hungarian population samples. World Journal of Gastroenterology, 13 (15). pp. 2205-2208. ISSN 1007-9327 (print), 2219-2840 (online) Bene, Judit and Komlósi, Katalin and Magyari, Lili and Talián, Gábor and Horváth, Krisztina and Gasztonyi, Beáta and Miheller, Pál and Figler, Mária and Mózsik, Gyula and Tulassay, Zsolt and Melegh, Béla (2007) Plasma carnitine ester profiles in Crohn's disease patients characterized for SLC22A4 C1672T and SLC22A5 G-207C genotypes. British Journal of Nutrition, 98 (2). pp. 345-350. ISSN 0007-1145; E-ISSN 1475-2662 Nádasi, Edit and Gyűrűs, P. and Czakó, Márta and Bene, Judit and Kosztolányi, Sz. and Fazekas, Sz. and Dömösi, P. and Melegh, B. (2007) Comparison of mtDNA haplogroups in Hungarians with four other European populations: A small incidence of descents with Asian origin. Acta Biologica Hungarica, 58 (2). pp. 245-256. ISSN 0236-5383 Bene, Judit and Komlósi, Katalin and Havasi, Viktória and Talián, Gábor and Gasztonyi, Beáta and Horváth, Krisztina and Mózsik, Gyula and Hunyady, Béla and Melegh, Béla and Figler, Mária (2006) Changes of plasma fasting carnitine ester profile in patients with ulcerative colitis. World Journal of Gastroenterology, 12 (1). pp. 110-113. ISSN 1007-9327 (print), 2219-2840 (online) Bene, Judit and Komlósi, Katalin and Gasztonyi, Beáta and Juhász, Márk and Tulassay, Zsolt and Melegh, Béla (2005) Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World Journal of Gastroenterology, 11 (42). pp. 6671-6675. ISSN 1007-9327 (print), 2219-2840 (online) Nádasi, Edit and Bene, Judit and Havasi, Viktória and Komlósi, Katalin and Talián, Gábor and Melegh, György and Papp, Előd and Gasztonyi, Beáta and Szolnoki, Zoltán and Sándor, János and Mózsik, Gyula and Tóth, Kálmán and Melegh, Béla and Wittmann, István (2005) Detection of the Leu40Arg variant of the platelet glycoprotein IIb/IIIa receptor in subject with thrombotic diseases. Thrombosis Research, 116 (6). pp. 479-482. ISSN 0049-3848, ESSN: 1879-2472 Komlósi, Katalin and Bene, Judit and Havasi, Viktória and Tihanyi, Marianna and Herczegfalvi, Ágnes and Móser, Judit and Melegh, Béla (2004) A mitokondriális DNS A3243G mutációja egy magyar családban. ORVOSI HETILAP, 145 (35). pp. 1805-1809. ISSN 0030-6002 Gasztonyi, Beáta and Juhász, M. and Horváth, K. and Bene, Judit and Komlósi, Katalin and Havasi, Viktória and Talián, Gábor and Zágoni, T. and Varjú, S. and Vélin, V. and Tulassay, Zsolt and Juricskay, I. and Mózsik, Gyula and Hunyady, Béla and Melegh, Béla (2004) On the plasma carnitine ester profile in adult celiac disease. Zeitschrift für Gastroenterologie, 42 (5). p. 35. ISSN 0044-2771 Horváth, K. and Gasztonyi, Beáta and Bene, Judit and Komlósi, Katalin and Havasi, V. and Talián, Gábor and Vélin, V. and Varjú, S. and Juhász, M. and Tulassay, Zsolt and Juricskay, I. and Mózsik, Gyula and Hunyady, Béla and Melegh, Béla (2004) Plasma carnitine ester profile in Chron's disease. Zeitschrift für Gastroenterologie, 42 (5). p. 50. ISSN 0044-2771 Havasi, Viktória and Bene, Judit and Komlósi, Katalin and Gasztonyi, Beáta and Talián, G. C and Cserép, V. and Kovács, B. and Mózsik, Gyula and Melegh, Béla (2002) Screening for two susceptibility-associated polymorphisms of OCTN carnitine transporter in Crohn-disease patients. European Journal of Human Genetics, 40 (5). pp. 276-277. ISSN 1018-4813; E-ISSN 1476-5438 |
