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Gergely Büki
Gergely Büki
在 pte.hu 的电子邮件经过验证
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引用次数
引用次数
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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
252021
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
182020
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
122018
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
82019
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
62023
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
42024
Copy Number Variations in Neuropsychiatric Disorders
G Büki, K Hadzsiev, J Bene
International Journal of Molecular Sciences 24 (18), 13671, 2023
42023
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
42022
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
22024
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
22023
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
22023
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
12023
Neurofibromatosis-1 microdeletiós szindróma.
G Büki, Á Till, A Zsigmond, J Bene, K Hadzsiev
Orvosi Hetilap 163 (51), 2041-2051, 2022
12022
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
12019
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
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