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Role of carnitine and its derivatives in the development and management of type 2 diabetes
Role of carnitine and its derivatives in the development and management of type 2 diabetes
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Role of carnitine and its derivatives in the development and management of type 2 diabetes

Bene, Judit ; Hadzsiev, Kinga ; Melegh, Bela

Nutrition & diabetes, 2018-03, Vol.8 (1), p.8-10, Article 8 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Rare Germline Variants in the Adenomatous Polyposis Coli Gene Associated with Dental and Osseous Anomalies
Rare Germline Variants in the Adenomatous Polyposis Coli Gene Associated with Dental and Osseous Anomalies
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Rare Germline Variants in the Adenomatous Polyposis Coli Gene Associated with Dental and Osseous Anomalies

Büki, Gergely ; Antal, Gréta ; Bene, Judit

International journal of molecular sciences, 2024-08, Vol.25 (15), p.8189 [Periódico revisado por pares]

Basel: MDPI AG

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3
Copy Number Variations in Neuropsychiatric Disorders
Copy Number Variations in Neuropsychiatric Disorders
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Copy Number Variations in Neuropsychiatric Disorders

Büki, Gergely ; Hadzsiev, Kinga ; Bene, Judit

International journal of molecular sciences, 2023-09, Vol.24 (18), p.13671 [Periódico revisado por pares]

Basel: MDPI AG

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4
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
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
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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

Buki, Gergely ; Hadzsiev, Kinga ; Bene, Judit

Current molecular medicine, 2023-01, Vol.23 (5), p.433-441 [Periódico revisado por pares]

Netherlands: Bentham Science Publishers

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5
Mass Spectrometric Analysis of L-carnitine and its Esters: Potential Biomarkers of Disturbances in Carnitine Homeostasis
Mass Spectrometric Analysis of L-carnitine and its Esters: Potential Biomarkers of Disturbances in Carnitine Homeostasis
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Mass Spectrometric Analysis of L-carnitine and its Esters: Potential Biomarkers of Disturbances in Carnitine Homeostasis

Bene, Judit ; Szabo, Andras ; Komlósi, Katalin ; Melegh, Bela

Current molecular medicine, 2020-01, Vol.20 (5), p.336-354 [Periódico revisado por pares]

Netherlands: Bentham Science Publishers Ltd

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6
Editorial: Copy Number Variation in Rare Disorders
Editorial: Copy Number Variation in Rare Disorders
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Editorial: Copy Number Variation in Rare Disorders

Komlósi, Katalin ; Gyenesei, Attila ; Bene, Judit

Frontiers in genetics, 2022-04, Vol.13, p.898059 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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7
Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder
Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder
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Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder

Zsigmond, Anna ; Till, Ágnes ; Bene, Judit ; Czakó, Márta ; Mikó, Alexandra ; Hadzsiev, Kinga

International journal of molecular sciences, 2024-06, Vol.25 (11), p.5709 [Periódico revisado por pares]

Basel: MDPI AG

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8
NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy
NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy
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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

International journal of molecular sciences, 2024-06, Vol.25 (11), p.5732 [Periódico revisado por pares]

Basel: MDPI AG

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9
Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly
Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly
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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

Molecular genetics and metabolism reports, 2024-03, Vol.38, p.101056, Article 101056 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Identification of an NF1 Microdeletion with Optical Genome Mapping
Identification of an NF1 Microdeletion with Optical Genome Mapping
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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

International journal of molecular sciences, 2023-09, Vol.24 (17), p.13580 [Periódico revisado por pares]

Basel: MDPI AG

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