Copy Number Variations in Neuropsychiatric Disorders
Büki, Gergely, Hadzsiev, Kinga, Bene, Judit
Published in International journal of molecular sciences (01.09.2023)
Published in International journal of molecular sciences (01.09.2023)
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Journal Article
NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy
Szalai, Renata, Hadzsiev, Kinga, Till, Agnes, Fogarasi, Andras, Bodo, Timea, Buki, Gergely, Banfai, Zsolt, Bene, Judit
Published in International journal of molecular sciences (01.06.2024)
Published in International journal of molecular sciences (01.06.2024)
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Journal Article
Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly
Szalai, Renata, Till, Agnes, Gyenesei, Attila, Bene, Judit, Hadzsiev, Kinga
Published in Molecular genetics and metabolism reports (01.03.2024)
Published in Molecular genetics and metabolism reports (01.03.2024)
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Journal Article
Identification of an NF1 Microdeletion with Optical Genome Mapping
Büki, Gergely, Bekő, Anna, Bödör, Csaba, Urbán, Péter, Németh, Krisztina, Hadzsiev, Kinga, Fekete, György, Kehrer-Sawatzki, Hildegard, Bene, Judit
Published in International journal of molecular sciences (01.09.2023)
Published in International journal of molecular sciences (01.09.2023)
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Journal Article
Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma
Maász, Anita, Bodó, Tímea, Till, Ágnes, Molnár, Gábor, Masszi, György, Labossa, Gusztáv, Herbert, Zsuzsanna, Bene, Judit, Hadzsiev, Kinga
Published in International journal of molecular sciences (01.08.2023)
Published in International journal of molecular sciences (01.08.2023)
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Journal Article
Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene
Veres, Klára, Bene, Judit, Hadzsiev, Kinga, Garami, Miklós, Pálla, Sára, Happle, Rudolf, Medvecz, Márta, Szalai, Zsuzsanna Zsófia
Published in International journal of molecular sciences (29.07.2023)
Published in International journal of molecular sciences (29.07.2023)
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Journal Article
Molecular genetic investigation of hereditary breast and ovarian cancer patients in the Southern Transdanubian region: widening the mutation spectrum and searching for new pathogenic variants using next-generation methods
Baráti, László, Maász, Anita, Mikó, Alexandra, Bércesi, Éva, Kalbani, Sultan Al, Bene, Judit, Kovács, Sebestyén, Mangel, László, Hadzsiev, Kinga
Published in Pathology oncology research (01.08.2024)
Published in Pathology oncology research (01.08.2024)
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Journal Article
Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis
Antal, Gréta, Zsigmond, Anna, Till, Ágnes, Orsi, Eniko, Szanto, Ildiko, Büki, Gergely, Kereskai, László, Herbert, Zsuzsanna, Hadzsiev, Kinga, Bene, Judit
Published in Pathology oncology research (14.05.2024)
Published in Pathology oncology research (14.05.2024)
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Journal Article
Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia - a first case report
Pálla, Sára, Anker, Pálma, Farkas, Klára, Plázár, Dóra, Kiss, Sándor, Marschalkó, Péter, Szalai, Zsuzsanna, Bene, Judit, Hadzsiev, Kinga, Maróti, Zoltán, Kalmár, Tibor, Medvecz, Márta
Published in BMC pediatrics (08.03.2023)
Published in BMC pediatrics (08.03.2023)
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Journal Article
Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature
Buki, Gergely, Szalai, Renata, Pinter, Adrienn, Hadzsiev, Kinga, Melegh, Bela, Rauch, Tibor, Bene, Judit
Published in Molecular genetics & genomic medicine (01.07.2023)
Published in Molecular genetics & genomic medicine (01.07.2023)
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Journal Article
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma
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
Published in European journal of human genetics : EJHG (01.06.2019)
Published in European journal of human genetics : EJHG (01.06.2019)
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Journal Article
Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions
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
Published in Frontiers in genetics (08.06.2021)
Published in Frontiers in genetics (08.06.2021)
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Journal Article
Interethnic differences of cytochrome P450 gene polymorphisms may influence outcome of taxane therapy in Roma and Hungarian populations
Szalai, Renata, Ganczer, Alma, Magyari, Lili, Matyas, Petra, Bene, Judit, Melegh, Bela
Published in Drug metabolism and pharmacokinetics (01.12.2015)
Published in Drug metabolism and pharmacokinetics (01.12.2015)
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Journal Article
Similarities in Serum Acylcarnitine Patterns in Type 1 and Type 2 Diabetes Mellitus and in Metabolic Syndrome
Bene, Judit, Márton, Magdolna, Mohás, Márton, Bagosi, Zoltán, Bujtor, Zoltán, Oroszlán, Tamás, Gasztonyi, Beáta, Wittmann, Istvan, Melegh, Bela
Published in Annals of nutrition and metabolism (01.01.2013)
Published in Annals of nutrition and metabolism (01.01.2013)
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