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1 |
Material Type: Artigo
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New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3)Domingo, Aloysius ; Westenberger, Ana ; Lee, Lillian V ; Brænne, Ingrid ; Liu, Tian ; Vater, Inga ; Rosales, Raymond ; Jamora, Roland Dominic ; Pasco, Paul Matthew ; Cutiongco-Dela Paz, Eva Maria ; Freimann, Karen ; Schmidt, Thomas Gpm ; Dressler, Dirk ; Kaiser, Frank J ; Bertram, Lars ; Erdmann, Jeanette ; Lohmann, Katja ; Klein, ChristineEuropean journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1334-1340 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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2 |
Material Type: Artigo
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Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panelMitt, Mario ; Kals, Mart ; Pärn, Kalle ; Gabriel, Stacey B ; Lander, Eric S ; Palotie, Aarno ; Ripatti, Samuli ; Morris, Andrew P ; Metspalu, Andres ; Esko, Tõnu ; Mägi, Reedik ; Palta, PriitEuropean journal of human genetics : EJHG, 2017-06, Vol.25 (7), p.869-876 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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3 |
Material Type: Artigo
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Y-chromosome descent clusters and male differential reproductive success: young lineage expansions dominate Asian pastoral nomadic populationsBalaresque, Patricia ; Poulet, Nicolas ; Cussat-Blanc, Sylvain ; Gerard, Patrice ; Quintana-Murci, Lluis ; Heyer, Evelyne ; Jobling, Mark AEuropean journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1413-1422 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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4 |
Material Type: Artigo
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The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and SicilyTofanelli, Sergio ; Brisighelli, Francesca ; Anagnostou, Paolo ; Busby, George B J ; Ferri, Gianmarco ; Thomas, Mark G ; Taglioli, Luca ; Rudan, Igor ; Zemunik, Tatijana ; Hayward, Caroline ; Bolnick, Deborah ; Romano, Valentino ; Cali, Francesco ; Luiselli, Donata ; Shepherd, Gillian B ; Tusa, Sebastiano ; Facella, Antonino ; Capelli, CristianEuropean journal of human genetics : EJHG, 2016-03, Vol.24 (3), p.429-436 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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5 |
Material Type: Artigo
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Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1aUnderhill, Peter A ; Myres, Natalie M ; Rootsi, Siiri ; Metspalu, Mait ; Zhivotovsky, Lev A ; King, Roy J ; Lin, Alice A ; Chow, Cheryl-Emiliane T ; Semino, Ornella ; Battaglia, Vincenza ; Kutuev, Ildus ; Järve, Mari ; Chaubey, Gyaneshwer ; Ayub, Qasim ; Mohyuddin, Aisha ; Mehdi, S Qasim ; Sengupta, Sanghamitra ; Rogaev, Evgeny I ; Khusnutdinova, Elza K ; Pshenichnov, Andrey ; Balanovsky, Oleg ; Balanovska, Elena ; Jeran, Nina ; Augustin, Dubravka Havas ; Baldovic, Marian ; Herrera, Rene J ; Thangaraj, Kumarasamy ; Singh, Vijay ; Singh, Lalji ; Majumder, Partha ; Rudan, Pavao ; Primorac, Dragan ; Villems, Richard ; Kivisild, ToomasEuropean journal of human genetics : EJHG, 2010-04, Vol.18 (4), p.479-484 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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6 |
Material Type: Artigo
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The (in)famous GWAS P-value threshold revisited and updated for low-frequency variantsFadista, João ; Manning, Alisa K ; Florez, Jose C ; Groop, LeifEuropean journal of human genetics : EJHG, 2016-08, Vol.24 (8), p.1202-1205 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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7 |
Material Type: Artigo
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Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder eventKotambail, Ananthapadmanabha ; Selvam, Pavalan ; Muthusamy, Karthik ; Thomas, Maya ; Sudhakar, Sniya Valsa ; Ghati, Chetan ; Danda, Sumita ; Arunachal, GauthamEuropean journal of human genetics : EJHG, 2023-01, Vol.31 (1), p.73-80 [Periódico revisado por pares]England: Springer International PublishingTexto completo disponível |
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8 |
Material Type: Artigo
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Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populationsDusatkova, Petra ; Pfäffle, Roland ; Brown, Milton R ; Akulevich, Natallia ; Arnhold, Ivo J P ; Kalina, Maria A ; Kot, Karolina ; Krzisnik, Ciril ; Lemos, Manuel C ; Malikova, Jana ; Navardauskaite, Ruta ; Obermannova, Barbora ; Pribilincova, Zuzana ; Sallai, Agnes ; Stipancic, Gordana ; Verkauskiene, Rasa ; Cinek, Ondrej ; Blum, Werner F ; Parks, John S ; Austerlitz, Frederic ; Lebl, JanEuropean journal of human genetics : EJHG, 2016-03, Vol.24 (3), p.415-420 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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9 |
Material Type: Artigo
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The Genome of the Netherlands: design, and project goalsBoomsma, Dorret I ; Wijmenga, Cisca ; Slagboom, Eline P ; Swertz, Morris A ; Karssen, Lennart C ; Abdellaoui, Abdel ; Ye, Kai ; Guryev, Victor ; Vermaat, Martijn ; van Dijk, Freerk ; Francioli, Laurent C ; Hottenga, Jouke Jan ; Laros, Jeroen F J ; Li, Qibin ; Li, Yingrui ; Cao, Hongzhi ; Chen, Ruoyan ; Du, Yuanping ; Li, Ning ; Cao, Sujie ; van Setten, Jessica ; Menelaou, Androniki ; Pulit, Sara L ; Hehir-Kwa, Jayne Y ; Beekman, Marian ; Elbers, Clara C ; Byelas, Heorhiy ; de Craen, Anton J M ; Deelen, Patrick ; Dijkstra, Martijn ; den Dunnen, Johan T ; de Knijff, Peter ; Houwing-Duistermaat, Jeanine ; Koval, Vyacheslav ; Estrada, Karol ; Hofman, Albert ; Kanterakis, Alexandros ; Enckevort, David van ; Mai, Hailiang ; Kattenberg, Mathijs ; van Leeuwen, Elisabeth M ; Neerincx, Pieter B T ; Oostra, Ben ; Rivadeneira, Fernanodo ; Suchiman, Eka H D ; Uitterlinden, Andre G ; Willemsen, Gonneke ; Wolffenbuttel, Bruce H ; Wang, Jun ; de Bakker, Paul I W ; van Ommen, Gert-Jan ; van Duijn, Cornelia MEuropean journal of human genetics : EJHG, 2014-02, Vol.22 (2), p.221-227 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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10 |
Material Type: Artigo
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The phylogenetic and geographic structure of Y-chromosome haplogroup R1aUnderhill, Peter A ; Poznik, G David ; Rootsi, Siiri ; Järve, Mari ; Lin, Alice A ; Wang, Jianbin ; Passarelli, Ben ; Kanbar, Jad ; Myres, Natalie M ; King, Roy J ; Di Cristofaro, Julie ; Sahakyan, Hovhannes ; Behar, Doron M ; Kushniarevich, Alena ; Sarac, Jelena ; Saric, Tena ; Rudan, Pavao ; Pathak, Ajai Kumar ; Chaubey, Gyaneshwer ; Grugni, Viola ; Semino, Ornella ; Yepiskoposyan, Levon ; Bahmanimehr, Ardeshir ; Farjadian, Shirin ; Balanovsky, Oleg ; Khusnutdinova, Elza K ; Herrera, Rene J ; Chiaroni, Jacques ; Bustamante, Carlos D ; Quake, Stephen R ; Kivisild, Toomas ; Villems, RichardEuropean journal of human genetics : EJHG, 2015-01, Vol.23 (1), p.124-131 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |