Print preview personal data approved: 2023. XII. 07. Publications |
2023
from data base, 2023. XII. 07. |
Büki Gergely, Bekő Anna, Bödör Csaba, Urbán Péter, Németh Krisztina, Hadzsiev Kinga, Fekete György, Kehrer-Sawatzki Hildegard, Bene Judit: Identification of an NF1 Microdeletion with Optical Genome Mapping, INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 24: (17) 13580 type of document: Journal paper/Article language: English URL |
2023
from data base, 2023. XII. 07. |
Buki Gergely, Hadzsiev Kinga, Bene Judit: Microhomology-Mediated Break-Induced Replication: A Possible Molecular Mechanism of the Formation of a Large CNV in FBN1 Gene in a Patient with Marfan Syndrome : A Possible Molecular Mechanism of the Formation of a Large CNV in FBN1 Gene in a Patient with Marfan Syndrome, CURRENT MOLECULAR MEDICINE 22: (5) pp. 433-441. type of document: Journal paper/Article language: English URL |
2021
from data base, 2023. XII. 07. |
Büki Gergely, Zsigmond Anna, Czakó Márta, Szalai Renáta, Antal Gréta, Farkas Viktor, Fekete György, Nagy Dóra, Széll Márta, Tihanyi Marianna, Melegh Béla, Hadzsiev Kinga, Bene Judit: Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions, FRONTIERS IN GENETICS 12: 673025 type of document: Journal paper/Article number of independent citations: 10 language: English URL |
2020
from data base, 2023. XII. 07. |
Till Ágnes, Zima Judith, Fekete Anett, Bene Judit, Czakó Márta, Szabó András, Melegh Béla, Hadzsiev Kinga: Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy, SEIZURE-EUROPEAN JOURNAL OF EPILEPSY 74: pp. 8-13. type of document: Journal paper/Article number of independent citations: 5 language: English URL |
2019
from data base, 2023. XII. 07. |
Schrauwen Isabelle, Melegh Béla I, Chakchouk Imen, Acharya Anushree, Nasir Abdul, Poston Alexis, Cornejo-Sanchez Diana M, Szabo Zsolt, Karosi Tamás, Bene Judit, Melegh Béla, Leal Suzanne M: Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma., EUROPEAN JOURNAL OF HUMAN GENETICS 27: (6) pp. 869-878. type of document: Journal paper/Article number of independent citations: 8 language: English URL |
2018
from data base, 2023. XII. 07. |
Bene J, Hadzsiev K, Melegh B: Role of carnitine and its derivatives in the development and management of type 2 diabetes., NUTRITION & DIABETES 8: (1) 8 type of document: Journal paper/Review paper number of independent citations: 108 language: English URL |
2014
from data base, 2023. XII. 07. |
Bene J, Melegh B: Biological insights from 108 schizophrenia-associated genetic loci, NATURE 511: (7510) pp. 421-427. type of document: number of independent citations: 4533 language: English URL |
2013
from data base, 2023. XII. 07. |
Bene J, Marton M, Mohas M, Bagosi Z, Bujtor Z, Oroszlan T, Gasztonyi B, Wittmann I, Melegh B: Similarities in Serum Acylcarnitine Patterns in Type 1 and Type 2 Diabetes Mellitus and in Metabolic Syndrome., ANNALS OF NUTRITION AND METABOLISM 62: (1) pp. 80-85. type of document: Journal paper/Article number of independent citations: 42 language: English URL |
2006
from data base, 2023. XII. 07. |
Havasi V, Szolnoki Z, Talian G, Bene J, Komlosi K, Maasz A, Somogyvari F, Kondacs A, Szabo M, Fodor L, Bodor A, Melegh B: Apolipoprotein A5 gene promoter region T-1131C polymorphism associates with elevated circulating triglyceride levels and confers susceptibility for development of ischemic stroke, JOURNAL OF MOLECULAR NEUROSCIENCE 29: (2) pp. 177-183. type of document: Journal paper/Article number of independent citations: 45 language: English URL |
2002
from data base, 2023. XII. 07. |
Vaz FM, Melegh B, Bene J, Cuebas D, Gage DA, Bootsma A, Vreken P, Van Genip AH, Bieber LL, Wanders RJ: Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tendem mass spectrometry, CLINICAL CHEMISTRY 48: pp. 826-834. type of document: Journal paper/Article number of independent citations: 26 language: English URL |
| Number of independent citations to these publications: | 4777 |
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