Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions G Büki, A Zsigmond, M Czakó, R Szalai, G Antal, V Farkas, G Fekete, ... Frontiers in Genetics 12, 673025, 2021 | 25 | 2021 |
Identification, presence, and possible multifunctional regulatory role of invertebrate gonadotropin-releasing hormone/corazonin molecule in the great pond snail (Lymnaea stagnalis) I Fodor, Z Zrinyi, R Horváth, P Urbán, R Herczeg, G Büki, JM Koene, ... General and Comparative Endocrinology 299, 113621, 2020 | 18 | 2020 |
Revealing the impact of the Caucasus region on the genetic legacy of Romani people from genome-wide data Z Bánfai, V Ádám, E Pöstyéni, G Büki, M Czakó, A Miseta, B Melegh PLoS One 13 (9), e0202890, 2018 | 12 | 2018 |
A rare form of ion channel gene mutation identified as underlying cause of generalized epilepsy Á Till, R Szalai, M Hegyi, E Kövesdi, G Büki, K Hadzsiev, B Melegh Orvosi Hetilap 160 (21), 835-838, 2019 | 8 | 2019 |
Copper-transporting ATPases throughout the animal evolution–From clinics to basal neuron-less animals I Fodor, LA Yañez-Guerra, B Kiss, G Büki, Z Pirger Gene, 147720, 2023 | 6 | 2023 |
Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis G Antal, A Zsigmond, Á Till, E Orsi, I Szanto, G Büki, L Kereskai, Z Herbert, ... Pathology and Oncology Research 30, 2024 | 4 | 2024 |
Copy Number Variations in Neuropsychiatric Disorders G Büki, K Hadzsiev, J Bene International Journal of Molecular Sciences 24 (18), 13671, 2023 | 4 | 2023 |
Genome-Wide Marker Data-Based Comparative Population Analysis of Szeklers From Korond, Transylvania, and From Transylvania Living Non-Szekler Hungarians V Ádám, Z Bánfai, K Sümegi, G Büki, A Szabó, L Magyari, A Miseta, ... Frontiers in Genetics 13, 841769, 2022 | 4 | 2022 |
Rare germline variants in the adenomatous polyposis coli gene associated with dental and osseous anomalies G Büki, G Antal, J Bene International Journal of Molecular Sciences 25 (15), 8189, 2024 | 2 | 2024 |
Identification of an NF1 Microdeletion with Optical Genome Mapping G Büki, A Bekő, C Bödör, P Urbán, K Németh, K Hadzsiev, G Fekete, ... International Journal of Molecular Sciences 24 (17), 13580, 2023 | 2 | 2023 |
Down-Syndrome-Related Maternal Dysbiosis Might Be Triggered by Certain Classes of Antibiotics: A New Insight into the Possible Pathomechanisms G Ternák, G Márovics, K Sümegi, Z Bánfai, G Büki, L Magyari, A Szabó, ... Antibiotics 12 (6), 1029, 2023 | 2 | 2023 |
Characterization of Danube Swabian population samples on a high-resolution genome-wide basis Z Bánfai, E Kövesdi, K Sümegi, G Büki, A Szabó, L Magyari, V Ádám, ... BMC genomics 24 (1), 9, 2023 | 1 | 2023 |
Neurofibromatosis-1 microdeletiós szindróma. G Büki, Á Till, A Zsigmond, J Bene, K Hadzsiev Orvosi Hetilap 163 (51), 2041-2051, 2022 | 1 | 2022 |
Generalizált epilepszia hátterében azonosított ioncsatorna-génmutáció ritka formája Á Till, R Szalai, M Hegyi, E Kövesdi, G Büki, K Hadzsiev, B Melegh Orvosi Hetilap 160 (21), 835-838, 2019 | 1 | 2019 |
Analysis of Gyimes Csango population samples on a high-resolution genome-wide basis Z Bánfai, G Büki, V Ádám, K Sümegi, A Szabó, K Hadzsiev, K Erős, ... BMC genomics 25 (1), 942, 2024 | | 2024 |
Down-Syndrome Development might be Associated with Dysbiosis, Triggered by Certain Classes of Antibiotics: Altered Maternal Microbiome as a New Insight into the Genomic Events T Gábor, G Márovics, K Sümegi, Z Bánfai, G Büki, L Magyari, A Szabó, ... Preprints, 2023 | | 2023 |
Down-Syndrome Development might be Associated with Dysbiosis, Triggered by Certain Classes of Antibiotics: Altered Maternal Microbiome as a New Insight into the Genomic Events G Ternák, G Márovics, K Sümegi, Z Bánfai, G Büki, L Magyari, A Szabó, ... | | 2023 |
Investigation of copy number variations in the development of rare Mendelian diseases G Büki PQDT-Global, 2022 | | 2022 |