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Szűcs Zsuzsanna

Szűcs Zsuzsanna

Publication list

2022
1.
Deák, A., Koczok, K., Bessenyei, B., Szűcs, Z., Madar, L., Csorba, G. É., Orosz, O., Laki, I., Halász, A., Marsal, G., Balogh, I.: A magyar Cystás Fibrosis Regiszter genetikai revíziója.
Orv. hetil. 163 (51), 2052-2059, 2022.
Journal metrics:
Q4 Medicine (miscellaneous)
2.
Szűcs, Z., Pinti, É., Haltrich, I., Pálné, S. O., Nagy, T., Barta, E., Méhes, G., Bidiga, L., Török, O., Ujfalusi, A., Koczok, K., Balogh, I.: An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: duchenne Muscular Dystrophy in a Female Patient.
Int. J. Mol. Sci. 23 (21), 1-15, 2022.
Journal metrics:
Q2 Catalysis
Q1 Computer Science Applications
D1 Inorganic Chemistry
Q1 Medicine (miscellaneous)
Q2 Molecular Biology
Q1 Organic Chemistry
Q1 Physical and Theoretical Chemistry
D1 Spectroscopy
3.
Madar, L., Juhász, L., Szűcs, Z., Kerkovits, L., Harangi, M., Balogh, I.: Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.
Genes. 13 (1), 1-13, (article identifier: 153), 2022.
Journal metrics:
Q2 Genetics (clinical)
Q2 Genetics
4.
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, 2022.
Journal metrics:
Q2 Genetics (clinical)
Q2 Genetics
2021
5.
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.
Journal metrics:
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.
Journal metrics:
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, 2021.
Journal metrics:
Q2 Genetics
Q2 Genetics (clinical)
8.
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, 2021.
Journal metrics:
Q2 Genetics
Q2 Genetics (clinical)
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