Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian RomaSchrauwen, Isabelle ; Melegh, Béla I ; Chakchouk, Imen ; Acharya, Anushree ; Nasir, Abdul ; Poston, Alexis ; Cornejo-Sanchez, Diana M ; Szabo, Zsolt ; Karosi, Tamás ; Bene, Judit ; Melegh, Béla ; Leal, Suzanne MEuropean journal of human genetics : EJHG, 2019-06, Vol.27 (6), p.869-878 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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2 |
Material Type: Artigo
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Characterization of Danube Swabian population samples on a high-resolution genome-wide basisBánfai, Zsolt ; Kövesdi, Erzsébet ; Sümegi, Katalin ; Büki, Gergely ; Szabó, András ; Magyari, Lili ; Ádám, Valerián ; Pálos, Ferenc ; Miseta, Attila ; Kásler, Miklós ; Melegh, BélaBMC genomics, 2023-01, Vol.24 (1), p.9-9, Article 9 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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3 |
Material Type: Artigo
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Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case reportBánfai, Zsolt ; Hadzsiev, Kinga ; Pál, Endre ; Komlósi, Katalin ; Melegh, Márton ; Balikó, László ; Melegh, BélaBMC medical genetics, 2017-09, Vol.18 (1), p.105-105, Article 105 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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4 |
Material Type: Artigo
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Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 MicrodeletionsBüki, Gergely ; Zsigmond, Anna ; Czakó, Márta ; Szalai, Renáta ; Antal, Gréta ; Farkas, Viktor ; Fekete, György ; Nagy, Dóra ; Széll, Márta ; Tihanyi, Marianna ; Melegh, Béla ; Hadzsiev, Kinga ; Bene, JuditFrontiers in genetics, 2021-06, Vol.12, p.673025-673025 [Periódico revisado por pares]Frontiers Media S.ATexto completo disponível |
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5 |
Material Type: Artigo
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Genome-Wide Marker Data-Based Comparative Population Analysis of Szeklers From Korond, Transylvania, and From Transylvania Living Non-Szekler HungariansÁdám, Valerián ; Bánfai, Zsolt ; Sümegi, Katalin ; Büki, Gergely ; Szabó, András ; Magyari, Lili ; Miseta, Attila ; Kásler, Miklós ; Melegh, BélaFrontiers in genetics, 2022-03, Vol.13, p.841769-841769 [Periódico revisado por pares]Switzerland: Frontiers Media S.ATexto completo disponível |
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6 |
Material Type: Artigo
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New Clinical Genetics - 3rd editionMelegh, BélaEuropean Journal of Human Genetics, 2016-12, Vol.24 (12), p.1832-1837 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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7 |
Material Type: Artigo
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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 AreaBánfai, Zsolt ; Melegh, Béla I ; Sümegi, Katalin ; Hadzsiev, Kinga ; Miseta, Attila ; Kásler, Miklós ; Melegh, BélaFrontiers in genetics, 2019-06, Vol.10, p.558-558 [Periódico revisado por pares]Switzerland: Frontiers Media S.ATexto completo disponível |
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8 |
Material Type: Artigo
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Refining the South Asian Origin of the Romani peopleMelegh, Bela I ; Banfai, Zsolt ; Hadzsiev, Kinga ; Miseta, Attila ; Melegh, BelaBMC genetics, 2017-08, Vol.18 (1), p.82-82, Article 82 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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9 |
Material Type: Artigo
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Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needsTaruscio, Domenica ; Groft, Stephen C. ; Cederroth, Helene ; Melegh, Béla ; Lasko, Paul ; Kosaki, Kenjiro ; Baynam, Gareth ; McCray, Alexa ; Gahl, William A.Molecular genetics and metabolism, 2015-12, Vol.116 (4), p.223-225 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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10 |
Material Type: Artigo
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Investigating the genetic characteristics of the Csangos, a traditionally Hungarian speaking ethnic group residing in RomaniaÁdám, Valerián ; Bánfai, Zsolt ; Maász, Anita ; Sümegi, Katalin ; Miseta, Attila ; Melegh, BélaJournal of human genetics, 2020-12, Vol.65 (12), p.1093-1103 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |