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International Journal of Molecular Sciences|September 28, 2023
Copy Number Variations in Neuropsychiatric DisordersGergely Büki, Kinga Hadzsiev, Judit BeneOrvosi Hetilap|December 18, 2022
[Neurofibromatosis-1 microdeletion syndrome.]Gergely Büki, Ágnes Till, Anna Zsigmond, et al.Current Molecular Medicine|April 11, 2023
Microhomology-Mediated Break-Induced Replication: A Possible Molecular Mechanism of the Formation of a Large CNV in FBN1 Gene in a Patient with Marfan SyndromeGergely Buki, Kinga Hadzsiev, Judit BeneNutrition & Diabetes|March 18, 2018
Role of carnitine and its derivatives in the development and management of type 2 diabetesJudit Bene, Kinga Hadzsiev, Bela MeleghInternational Journal of Molecular Sciences|August 10, 2024
Rare Germline Variants in the Adenomatous Polyposis Coli Gene Associated with Dental and Osseous AnomaliesGergely Büki, Gréta Antal, Judit BeneInternational Journal of Molecular Sciences|September 9, 2023
Identification of an NF1 Microdeletion with Optical Genome MappingGergely Büki, Anna Bekő, Csaba Bödör, et al.Pathology Oncology Research : POR|May 29, 2024
Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosisGréta Antal, Anna Zsigmond, Ágnes Till, et al.Molecular Genetics and Metabolism Reports|March 12, 2024
Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephalyRenata Szalai, Agnes Till, Attila Gyenesei, et al.Frontiers in Genetics|June 25, 2021
Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 MicrodeletionsGergely Büki, Anna Zsigmond, Márta Czakó, et al.International Journal of Molecular Sciences|December 11, 2025
Heterogeneity of Orodental Features in a Family with Noonan SyndromeGréta Antal, Laura Csabai, Anna Zsigmond, et al.Pageof 14