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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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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 |
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3 |
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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4 |
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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Material Type: Artigo
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Towards a European consensus for reporting incidental findings during clinical NGS testingHehir-Kwa, Jayne Y ; Claustres, Mireille ; Hastings, Ros J ; van Ravenswaaij-Arts, Conny ; Christenhusz, Gabrielle ; Genuardi, Maurizio ; Melegh, Béla ; Cambon-Thomsen, Anne ; Patsalis, Philippos ; Vermeesch, Joris ; Cornel, Martina C ; Searle, Beverly ; Palotie, Aarno ; Capoluongo, Ettore ; Peterlin, Borut ; Estivill, Xavier ; Robinson, Peter NEuropean journal of human genetics : EJHG, 2015-12, Vol.23 (12), p.1601-1606 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophyAlonso-Pérez, Jorge ; González-Quereda, Lidia ; Bruno, Claudio ; Panicucci, Chiara ; Alavi, Afagh ; Nafissi, Shahriar ; Nilipour, Yalda ; Zanoteli, Edmar ; Isihi, Lucas Michielon de Augusto ; Melegh, Béla ; Hadzsiev, Kinga ; Muelas, Nuria ; Vílchez, Juan J ; Dourado, Mario Emilio ; Kadem, Naz ; Kutluk, Gultekin ; Umair, Muhammad ; Younus, Muhammad ; Pegorano, Elena ; Bello, Luca ; Crawford, Thomas O ; Suárez-Calvet, Xavier ; Töpf, Ana ; Guglieri, Michela ; Marini-Bettolo, Chiara ; Gallano, Pia ; Straub, Volker ; Díaz-Manera, JordiBrain (London, England : 1878), 2022-04, Vol.145 (2), p.596-606 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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7 |
Material Type: Artigo
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Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort studyJacobi, Heike, MD ; du Montcel, Sophie Tezenas, PhD ; Bauer, Peter, MD ; Giunti, Paola, PhD ; Cook, Arron, MBBS ; Labrum, Robyn, MD ; Parkinson, Michael H, MBBS ; Durr, Alexandra, PhD ; Brice, Alexis, Prof ; Charles, Perrine, MD ; Marelli, Cecilia, MD ; Mariotti, Caterina, MD ; Nanetti, Lorenzo, MD ; Panzeri, Marta, MD ; Rakowicz, Maria, MD ; Sulek, Anna, PhD ; Sobanska, Anna, MD ; Schmitz-Hübsch, Tanja, MD ; Schöls, Ludger, MD ; Hengel, Holger, MD ; Baliko, Laszlo, MD ; Melegh, Bela, Prof ; Filla, Alessandro, Prof ; Antenora, Antonella, MD ; Infante, Jon, MD ; Berciano, José, Prof ; van de Warrenburg, Bart P, PhD ; Timmann, Dagmar, MD ; Szymanski, Sandra, MD ; Boesch, Sylvia, MD ; Kang, Jun-Suk, MD ; Pandolfo, Massimo, Prof ; Schulz, Jörg B, Prof ; Molho, Sonia, MSc ; Diallo, Alhassane, MD ; Klockgether, Thomas, ProfLancet neurology, 2015-11, Vol.14 (11), p.1101-1108 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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8 |
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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9 |
Material Type: Artigo
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Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort studyDiallo, Alhassane ; Jacobi, Heike ; Cook, Arron ; Labrum, Robyn ; Durr, Alexandra ; Brice, Alexis ; Charles, Perrine ; Marelli, Cecilia ; Mariotti, Caterina ; Nanetti, Lorenzo ; Panzeri, Marta ; Rakowicz, Maria ; Sobanska, Anna ; Sulek, Anna ; Schmitz-Hübsch, Tanja ; Schöls, Ludger ; Hengel, Holger ; Melegh, Bela ; Filla, Alessandro ; Antenora, Antonella ; Infante, Jon ; Berciano, José ; van de Warrenburg, Bart P ; Timmann, Dagmar ; Boesch, Sylvia ; Pandolfo, Massimo ; Schulz, Jörg B ; Bauer, Peter ; Giunti, Paola ; Kang, Jun-Suk ; Klockgether, Thomas ; Tezenas du Montcel, SophieLancet neurology, 2018-04, Vol.17 (4), p.327-334 [Periódico revisado por pares]London: Elsevier LtdTexto completo disponível |
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10 |
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 |