未登录Genetic variants in the IFNGR2 locus associated with severe chronic Q fever
David, Susana; Castro, Liliana; Duarte, Elsa; Gaspar, Ulisses; Rodrigues, Maria Rosario da Costa; Cueto-Rojo, Maria Vanessa; Mendonca, Joana; Ferrao, Jose; Machado, Miguel; Pocas, Jose; Lavinha, Joao; Vieira, Luis; Santos, Ana Sofia
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收藏Genetic modulators of fetal hemoglobin expression and ischemic stroke occurrence in African descendant children with sickle cell anemia非洲裔镰状细胞性贫血患儿胎儿血红蛋白表达和缺血性卒中发生的遗传调节剂
Nicolau, Marta; Vargas, Sofia; Silva, Marisa; Coelho, Andreia; Ferreira, Emanuel; Mendonca, Joana; Vieira, Luis; Kjollerstrom, Paula; Maia, Raquel; Silva, Rita; Dias, Alexandra; Ferreira, Teresa; Morais, Anabela; Soares, Isabel Mota; Lavinha, Joao; Faustino, Paula
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收藏Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis
David, Dezso; Anand, Deepti; Araujo, Carlos; Gloss, Brian; Fino, Joana; Dinger, Marcel; Lindahl, Paivi; Poyhonen, Minna; Hannele, Laivuori; Lavinha, Joao
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收藏Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia
Ferrao, Jose; Silva, Marisa; Goncalves, Lucia; Gomes, Susana; Loureiro, Pedro; Coelho, Andreia; Miranda, Armandina; Seuanes, Filomena; Reis, Ana Batalha; Pina, Francisca; Maia, Raquel; Kjollerstrom, Paula; Monteiro, Estela; Lacerda, Joao F.; Lavinha, Joao; Goncalves, Joao; Faustino, Paula
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收藏The Genetic Legacy of Religious Diversity and Intolerance: Paternal Lineages of Christians, Jews, and Muslims in the Iberian Peninsula
Adams, Susan M.; Bosch, Elena; Balaresque, Patricia L.; Ballereau, Stephane J.; Lee, Andrew C.; Arroyo, Eduardo; Lopez-Parra, Ana M.; Aler, Mercedes; Grifo, Marina S. Gisbert; Brion, Maria; Carracedo, Angel; Lavinha, Joao; Martinez-Jarreta, Begona; Quintana-Murci, Lluis; Picornell, Antonia; Ramon, Misericordia; Skorecki, Karl; Behar, Doron M.; Calafell, Francesc; Jobling, Mark A.
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收藏Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay
Inácio, A; Silva, AL; Pinto, J; Ji, XJ; Morgado, A; Almeida, F; Faustino, P; Lavinha, J; Liebhaber, SA; Romao, L
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收藏Phylogeographic analysis of haplogroup E3b (E-M215) Y chromosomes reveals multiple migratory events within and out of Africa
Cruciani, F; La Fratta, R; Santolamazza, P; Sellitto, D; Pascone, R; Moral, P; Watson, E; Guida, V; Colomb, EB; Zaharova, B; Lavinha, J; Vona, G; Aman, R; Calì, F; Akar, N; Richards, M; Torroni, A; Novelletto, A; Scozzari, R
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收藏Asymptomatic homozygous in an African deletional β0-thalassemia individual
Faustino, P; Reis, AB; Feliciano, H; Ferrao, L; Pereira, P; Picanço, I; Miranda, A; Seixas, T; Romao, L; Correia, E; Lavinha, J
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收藏Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language
Rosser, ZH; Zerjal, T; Hurles, ME; Adojaan, M; Alavantic, D; Amorim, A; Amos, W; Armenteros, M; Arroyo, E; Barbujani, G; Beckman, G; Beckman, L; Bertranpetit, J; Bosch, E; Bradley, DG; Brede, G; Cooper, G; Côrte-Real, HBSM; de Knijff, P; Decorte, R; Dubrova, YE; Evgrafov, O; Gilissen, A; Glisic, S; Gölge, M; Hill, EW; Jeziorowska, A; Kalaydjieva, L; Kayser, M; Kivisild, T; Kravchenko, SA; Krumina, A; Kucinskas, V; Lavinha, J; Livshits, LA; Malaspina, P; Maria, S; McElreavey, K; Meitinger, TA; Mikelsaar, AV; Mitchell, RJ; Nafa, K; Nicholson, J; Norby, S; Pandya, A; Parik, J; Patsalis, PC; Pereira, L; Peterlin, B; Pielberg, G; Prata, ML; Previderé, C; Roewer, L; Rootsi, S; Rubinsztein, DC; Saillard, J; Santos, FR; Stefanescu, G; Sykes, BC; Tolun, A; Villems, R; Tyler-Smith, C; Jobling, MA
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