The library will operate on a duty schedule between 22 December 2025 and 4 January 2026. During this period, it will be possible to upload publications, but all other services will be suspended.
Kárteszi, J.,
Ziegler, A.,
Tihanyi, M.,
Elmont, B.,
Zhang, Y.,
Patócs, B.,
Molnár, M. J.,
Méhes, G.,
Wells, K.,
Jakus, R.,
Bessenyei, B.,
Ranatunga, W.,
Morava, É.:
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.
Am. J. Med. Genet. A. 191 (9), 2428-2432, 2023.
Szabó, T. M.,
Balogh, I.,
Ujfalusi, A.,
Szűcs, Z.,
Madar, L.,
Koczok, K.,
Bessenyei, B.,
Csürke, I.,
Szakszon, K.:
Helsmoortel-Van der Aa Syndrome: Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies.
Genes. 13 (12), 1-13, (article identifier: 2367), 2022.
Maia, N.,
Ibarluzea, N.,
Misra-Isrie, M.,
Koboldt, D. C.,
Marques, I.,
Soares, G.,
Santos, R.,
Marcelis, C.,
Keski-Filppula, R.,
Guitart, M.,
Gabau Vila, E.,
Lehman, A.,
Hickey, S.,
Mori, M.,
Terhal, P.,
Valenzuela, I.,
Lasa, A. A.,
Cueto-González, A. M.,
Chhouk, B. H.,
Yeh, R. C.,
Neil, J. E.,
Abu-Libde, B.,
Kleefstra, T.,
Elting, M. W.,
Császár, A.,
Kárteszi, J.,
Bessenyei, B.,
van Bokhoven, H.,
Jorge, P.,
van Hagen, J. M.,
de Brouwer, A. P. M.:
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Am. J. Med. Genet. A. 191 (1), 135-143, 2022.
Bessenyei, B.,
Tihanyi, M.,
Hartwig, M.,
Szakszon, K.,
Oláh, É.:
Variable expressivity of Pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.
Am. J. Med. Genet. A. 164A (12), 3176-3179, 2014.
Bessenyei, B.,
Nagy, A.,
Balogh, E.,
Novák, L.,
Bognár, L.,
Knegt, A. C.,
Oláh, É.:
Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association.
Am. J. Med. Genet. A. 161 (10), 2641-2644, 2013.
Cunningham, M. L.,
Romitti, P. A.,
Justice, C. M.,
Wilson, A. F.,
Roscioli, T.,
Oláh, É.,
Bessenyei, B.,
Passos-Bueno, M. R.,
Wollnik, B.,
Wilkie, A. O.,
Boyadjiev Boyd, S.,
International Craniosynostosis Consortium:
Clinical and molecular characterization of non-syndromic craniosynostosis: an International Consortium Approach.
In: Annual Meeting of The American Society of Human Genetics / [ed. by American Society of Human Genetics], American Society of Human Genetics, San Francisco, , 2012.
Mokánszki, A.,
Körhegyi, I.,
Szabó, N.,
Bereg, E.,
Gergev, G.,
Balogh, E.,
Bessenyei, B.,
Sümegi, A.,
Morris-Rosendahl, D. J.,
Sztriha, L.,
Oláh, É.:
Lissencephaly and Band Heterotopia: LIS1, TUBA1A, and DCX Mutations in Hungary.
J. Child Neurol. 27 (12), 1534-1540, 2012.
Bessenyei, B.,
Ujfalusi, A.,
Balogh, E.,
Oláh, É.,
Szegedi, I.,
Kiss, C.:
Jumping translocation of chromosome 1q associated with good clinical outcome in a case of Burkitt leukemia.
Cancer Genet. Cytogenet. 204 (4), 207-210, 2011.
Demuth, I.,
Dutrannoy, V.,
Marques, W.,
Neitzel, H.,
Schindler, D.,
Dimova, P. S.,
Chrzanowska, K. H.,
Bojinova, V.,
Gregorek, H.,
Graul-Neumann, L. M.,
Moers, A.,
Schulze, I.,
Nicke, M.,
Bora, E.,
Cankaya, T.,
Oláh, É.,
Kiss, C.,
Bessenyei, B.,
Szakszon, K.,
Gruber-Sedlmayr, U.,
Kroisel, P. M.,
Sodia, S.,
Goecke, T. O.,
Dörk, T.,
Digweed, M.,
Sperling, K.,
Sá, J.,
Lourenco, C. M.,
Varon, R.:
New mutations in the ATM gene and clinical data of 25 AT patients.
Neurogenetics. 12 (4), 273-282, 2011.
Kovács, M.,
Alexy, M.,
Kováts, S. E.,
Anghelyi, A.,
Vaszari, Z.,
Halmen, M.,
Bessenyei, B.,
Bognár, L.:
Apert-szindróma hátterében igazolt FGFR2 génmutáció.
Gyermekgyógyászat. 59 (2), 104-108, 2008.
