Role of carnitine and its derivatives in the development and management of type 2 diabetes von Bene, Judit, Hadzsiev, Kinga, Melegh, Bela

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Copy Number Variations in Neuropsychiatric Disorders von Büki, Gergely, Hadzsiev, Kinga, Bene, Judit

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NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy von Szalai, Renata, Hadzsiev, Kinga, Till, Agnes, Fogarasi, Andras, Bodo, Timea, Buki, Gergely, Banfai, Zsolt, Bene, Judit

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Case Report of Suspected Gonadal Mosaicism in FOXP1 -Related Neurodevelopmental Disorder von Zsigmond, Anna, Till, Ágnes, Bene, Judit, Czakó, Márta, Mikó, Alexandra, Hadzsiev, Kinga

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Analysis of Gyimes Csango population samples on a high-resolution genome-wide basis von Bánfai, Zsolt, Büki, Gergely, Ádám, Valerián, Sümegi, Katalin, Szabó, András, Hadzsiev, Kinga, Erős, Krisztián, Gallyas, Ferenc, Miseta, Attila, Kásler, Miklós, Melegh, Béla

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Importance and application of WES in fetal genetic diagnostics: Identification of novel ASPM mutation in a fetus with microcephaly von Szalai, Renata, Till, Agnes, Gyenesei, Attila, Bene, Judit, Hadzsiev, Kinga

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Identification of an NF1 Microdeletion with Optical Genome Mapping von Büki, Gergely, Bekő, Anna, Bödör, Csaba, Urbán, Péter, Németh, Krisztina, Hadzsiev, Kinga, Fekete, György, Kehrer-Sawatzki, Hildegard, Bene, Judit

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Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma von Maász, Anita, Bodó, Tímea, Till, Ágnes, Molnár, Gábor, Masszi, György, Labossa, Gusztáv, Herbert, Zsuzsanna, Bene, Judit, Hadzsiev, Kinga

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Superimposed Mosaicism in the Form of Extremely Extended Segmental Plexiform Neurofibroma Caused by a Novel Pathogenic Variant in the NF1 Gene von Veres, Klára, Bene, Judit, Hadzsiev, Kinga, Garami, Miklós, Pálla, Sára, Happle, Rudolf, Medvecz, Márta, Szalai, Zsuzsanna Zsófia

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Cognitive functioning and clinical characteristics of children with non-syndromic orofacial clefts: A case-control study von Sándor-Bajusz, Kinga Amália, Dergez, Tímea, Molnár, Edit, Hadzsiev, Kinga, Till, Ágnes, Zsigmond, Anna, Vástyán, Attila, Csábi, Györgyi

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Molecular genetic investigation of hereditary breast and ovarian cancer patients in the Southern Transdanubian region: widening the mutation spectrum and searching for new pathogen... von Baráti, László, Maász, Anita, Mikó, Alexandra, Bércesi, Éva, Kalbani, Sultan Al, Bene, Judit, Kovács, Sebestyén, Mangel, László, Hadzsiev, Kinga

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Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis von Antal, Gréta, Zsigmond, Anna, Till, Ágnes, Orsi, Eniko, Szanto, Ildiko, Büki, Gergely, Kereskai, László, Herbert, Zsuzsanna, Hadzsiev, Kinga, Bene, Judit

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Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia - a first case report von Pálla, Sára, Anker, Pálma, Farkas, Klára, Plázár, Dóra, Kiss, Sándor, Marschalkó, Péter, Szalai, Zsuzsanna, Bene, Judit, Hadzsiev, Kinga, Maróti, Zoltán, Kalmár, Tibor, Medvecz, Márta

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Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature von Buki, Gergely, Szalai, Renata, Pinter, Adrienn, Hadzsiev, Kinga, Melegh, Bela, Rauch, Tibor, Bene, Judit

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Expanded phenotype of AARS1-related white matter disease von Helman, Guy, Mendes, Marisa I., Nicita, Francesco, Darbelli, Lama, Sherbini, Omar, Moore, Travis, Derksen, Alexa, Amy Pizzino, Carrozzo, Rosalba, Torraco, Alessandra, Catteruccia, Michela, Aiello, Chiara, Goffrini, Paola, Figuccia, Sonia, Smith, Desiree E. C., Hadzsiev, Kinga, Hahn, Andreas, Biskup, Saskia, Brösse, Ines, Kotzaeridou, Urania, Gauck, Darja, Grebe, Theresa A., Elmslie, Frances, Stals, Karen, Gupta, Rajat, Bertini, Enrico, Thiffault, Isabelle, Taft, Ryan J., Schiffmann, Raphael, Brandl, Ulrich, Haack, Tobias B., Salomons, Gajja S., Simons, Cas, Bernard, Geneviève, van der Knaap, Marjo S., Vanderver, Adeline, Husain, Ralf A.

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Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients von Czakó, Márta, Till, Ágnes, Szabó, András, Ripszám, Réka, Melegh, Béla, Hadzsiev, Kinga

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Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions von Buki, Gergely, Zsigmond, Anna, Czako, Marta, Szalai, Renata, Antal, Greta, Farkas, Viktor, Fekete, Gyorgy, Nagy, Dora, Szell, Marta, Tihanyi, Marianna, Melegh, Bela, Hadzsiev, Kinga, Bene, Judit

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Revealing the Genetic Impact of the Ottoman Occupation on Ethnic Groups of East-Central Europe and on the Roma Population of the Area von Bánfai, Zsolt, Melegh, Béla I, Sümegi, Katalin, Hadzsiev, Kinga, Miseta, Attila, Kásler, Miklós, Melegh, Béla

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Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation von Czako, Marta, Till, Agnes, Zima, Judith, Zsigmond, Anna, Szabo, Andras, Maasz, Anita, Melegh, Bela, Hadzsiev, Kinga

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The Importance of Genetic Testing in the Differential Diagnosis of Atypical TSC2-PKD1 Contiguous Gene Syndrome-Case Series von Orosz, Petronella, Kollák, Zita, Pethő, Ákos, Fogarasi, András, Reusz, György, Hadzsiev, Kinga, Szabó, Tamás

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