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.
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.
Gaál, Z.,
Szűcs, Z.,
Kántor, I.,
Luczay, A.,
Tóth, H. P.,
Benn, O.,
Felszeghy, E. N.,
Karádi, Z.,
Madar, L.,
Balogh, I.:
A Comprehensive Analysis of Hungarian MODY Patients-Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes.
Life (Basel). 11 (755), 1-13, 2021.
Q2
Biochemistry, Genetics and Molecular Biology (miscellaneous)
Q2
Ecology, Evolution, Behavior and Systematics
Q2
Paleontology
Q3
Space and Planetary Science
6.
Gaál, Z.,
Szűcs, Z.,
Kántor, I.,
Luczay, A.,
Tóth, H. P.,
Benn, O.,
Felszeghy, E. N.,
Karádi, Z.,
Madar, L.,
Balogh, I.:
A Comprehensive Analysis of Hungarian MODY Patients-Part II: glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.
Life (Basel). 11 (8), 1-20, 2021.
Q2
Biochemistry, Genetics and Molecular Biology (miscellaneous)
Q2
Ecology, Evolution, Behavior and Systematics
Q2
Paleontology
Q3
Space and Planetary Science
7.
Szűcs, Z.,
Fitala, R.,
Nyuzó, Á. R.,
Fodor, K.,
Czemmel, É.,
Vrancsik, N.,
Bessenyei, M.,
Szabó, T.,
Szakszon, K.,
Balogh, I.:
Four New Cases of Hypomyelinating Leukodystrophy Associated with the UFM1 c.-155_-153delTCA Founder Mutation in Pediatric Patients of Roma Descent in Hungary.
Genes. 12 (9), 1-13, (article identifier: 1331), 2021.
Kozma, K.,
Bembea, M.,
Jurca, C.,
Ioana, M.,
Streaţă, I.,
Şoşoi, S. Ş.,
Pirvu, A.,
Petchesi, C. D.,
Szilágyi, A.,
Sava, C. N.,
Jurca, A.,
Ujfalusi, A.,
Szűcs, Z.,
Szakszon, K.:
Greig Cephalopolysyndactyly Contiguous Gene Syndrome: case Report and Literature Review.
Genes. 12 (11), 1-9, (article identifier: 1674), 2021.