Copper-transporting ATPases throughout the animal evolution – From clinics to basal neuron-less animals
Fodor, István, Yañez-Guerra, Luis Alfonso, Kiss, Bence, Büki, Gergely, Pirger, Zsolt
Published in Gene (15.11.2023)
Published in Gene (15.11.2023)
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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
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
A rare form of ion channel gene mutation identified as underlying cause of generalized epilepsy
Till, Ágnes, Szalai, Renáta, Hegyi, Márta, Kövesdi, Erzsébet, Büki, Gergely, Hadzsiev, Kinga, Melegh, Béla
Published in Orvosi hetilap (01.05.2019)
Published in Orvosi hetilap (01.05.2019)
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Journal Article
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
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
Identification, presence, and possible multifunctional regulatory role of invertebrate gonadotropin-releasing hormone/corazonin molecule in the great pond snail (Lymnaea stagnalis)
Fodor, István, Zrinyi, Zita, Horváth, Réka, Urbán, Péter, Herczeg, Róbert, Büki, Gergely, Koene, Joris M., Tsai, Pei-San, Pirger, Zsolt
Published in General and comparative endocrinology (01.12.2020)
Published in General and comparative endocrinology (01.12.2020)
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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
Revealing the impact of the Caucasus region on the genetic legacy of Romani people from genome-wide data
Bánfai, Zsolt, Ádám, Valerián, Pöstyéni, Etelka, Büki, Gergely, Czakó, Márta, Miseta, Attila, Melegh, Béla
Published in PloS one (10.09.2018)
Published in PloS one (10.09.2018)
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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
Characterization of Danube Swabian population samples on a high-resolution genome-wide basis
Bánfai, Zsolt, Kövesdi, Erzsébet, Sümegi, Katalin, Büki, Gergely, Szabó, András, Magyari, Lili, Ádám, Valerián, Pálos, Ferenc, Miseta, Attila, Kásler, Miklós, Melegh, Béla
Published in BMC genomics (09.01.2023)
Published in BMC genomics (09.01.2023)
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Journal Article
Genome-Wide Marker Data-Based Comparative Population Analysis of Szeklers From Korond, Transylvania, and From Transylvania Living Non-Szekler Hungarians
Ádám, Valerián, Bánfai, Zsolt, Sümegi, Katalin, Büki, Gergely, Szabó, András, Magyari, Lili, Miseta, Attila, Kásler, Miklós, Melegh, Béla
Published in Frontiers in genetics (28.03.2022)
Published in Frontiers in genetics (28.03.2022)
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Journal Article
Down-Syndrome-Related Maternal Dysbiosis Might Be Triggered by Certain Classes of Antibiotics: A New Insight into the Possible Pathomechanisms
Ternák, Gábor, Márovics, Gergely, Sümegi, Katalin, Bánfai, Zsolt, Büki, Gergely, Magyari, Lili, Szabó, András, Melegh, Béla
Published in Antibiotics (Basel) (01.06.2023)
Published in Antibiotics (Basel) (01.06.2023)
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Journal Article
Identification of an INF1/I 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
Neurofibromatosis-1 microdeletion syndrome.
Büki, Gergely, Till, Ágnes, Zsigmond, Anna, Bene, Judit, Hadzsiev, Kinga
Published in Orvosi hetilap (18.12.2022)
Published in Orvosi hetilap (18.12.2022)
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Journal Article
Identification, presence, and possible multifunctional regulatory role of invertebrate gonadotropin-releasing hormone/corazonin molecule in the great pond snail (Lymnaea stagnalis)
Fodor, Istvan, Zrinyi, Zita, Horvath, Reka, Urban, Peter, Herczeg, Robert, Buki, Gergely, Koene, Joris M, Pei-San Tsai, Pirger, Zsolt
Published in bioRxiv (07.03.2020)
Published in bioRxiv (07.03.2020)
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Paper
TIERMODINAMIChIESKIIE PRINTsIPY USTANOVLIENIYa GIEOMIETRII SISTIEMY OKhLAZhDIENIYa TsILINDRIChIESKIKh YaDIERNYKh RIEAKTOROV. Termodinamiceskie principy ustanovleniâ geometrii sistemy ohlazdeniâ cilindriceskih âdernyh reaktorov
Büki, Gergely
Published in Periodica polytechnica. Mechanical engineering - Mas̆inostroenie (01.01.1964)
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Published in Periodica polytechnica. Mechanical engineering - Mas̆inostroenie (01.01.1964)
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