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The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor Azar, Yara; Ludwig, Thomas E.; Le Bon, Hugo; Strom, Thea Bismo; Bluteau, Olivier; Di-Filippo, Mathilde; Carrie, Alain; Chtioui, Hedi; Beliard, Sophie; Marmontel, Oriane; Fonteille, Annie; Gebhart, Maite; Peretti, Noel; Moulin, Philippe; Ferrieres, Jean; Pradignac, Alain; Farnier, Michel; Gallo, Antonio; Yelnik, Cecile; Blom, Dirk; Genin, Emmanuelle; Bogsrud, Martin Proven; Leren, Trond P.; Boileau, Catherine; Abifadel, Marianne; Rabes, Jean-Pierre; Varret, Mathilde 分享 收藏
Human genetic structure in Northwest France provides new insights into West European historical demography 法国西北部的人类遗传结构为西欧历史人口统计学提供了新的见解 Alves, Isabel; Giemza, Joanna; Blum, Michael G. B.; Bernhardsson, Carolina; Chatel, Stephanie; Karakachoff, Matilde; Saint Pierre, Aude; Herzig, Anthony F.; Olaso, Robert; Monteil, Martial; Gallien, Veronique; Cabot, Elodie; Svensson, Emma; Bacq, Delphine; Baron, Estelle; Berthelier, Charlotte; Besse, Celine; Blanche, Helene; Bocher, Ozvan; Boland, Anne; Bonnaud, Stephanie; Charpentier, Eric; Dandine-Roulland, Claire; Ferec, Claude; Fruchet, Christine; Lecointe, Simon; Le Floch, Edith; Ludwig, Thomas E.; Marenne, Gaelle; Meyer, Vincent; Quellery, Elisabeth; Racimo, Fernando; Rouault, Karen; Sandron, Florian; Schott, Jean-Jacques; Velo-Suarez, Lourdes; Violleau, Jade; Willerslev, Eske; Coativy, Yves; Jezequel, Mael; Le Bris, Daniel; Nicolas, Clement; Pailler, Yvan; Goldberg, Marcel; Zins, Marie; Le Marec, Herve; Jakobsson, Mattias; Darlu, Pierre; Genin, Emmanuelle; Deleuze, Jean-Francois; Redon, Richard; Dina, Christian 分享 收藏
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Role for Akt3/Protein kinase Bγ in attainment of normal brain size Easton, RM; Cho, H; Roovers, K; Shineman, DW; Mizrahi, M; Forman, MS; Lee, VMY; Szabolcs, M; de Jong, R; Oltersdorf, T; Ludwig, T; Efstratiadis, A; Birnbaum, MJ 分享 收藏
The mammalian ortholog of Drosophila MOF that acetylates histone H4 lysine 16 is essential for embryogenesis and oncogenesis Gupta, Arun; Guerin-Peyrou, T. Geraldine; Sharma, Girdhar G.; Park, Changwon; Agarwal, Manjula; Ganju, Ramesh K.; Pandita, Shruti; Choi, Kyunghee; Sukumar, Saraswati; Pandita, Raj K.; Ludwig, Thomas; Pandita, Tej K. 分享 收藏
Potential role for ADAM15 in pathological neovascularization in mice Horiuchi, K; Weskamp, G; Lum, L; Hammes, HP; Cai, H; Brodie, TA; Ludwig, T; Chiusaroli, R; Baron, R; Preissner, KT; Manova, K; Blobel, CP 分享 收藏
Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score 测试与编码和非编码基因组中罕见变异的关联: RAVA-首先，一种基于CADD有害度评分的新方法 Bocher, Ozvan; Ludwig, Thomas E.; Oglobinsky, Marie-Sophie; Marenne, Gaeelle; Deleuze, Jean-Francois; Suryakant, Suryakant; Odeberg, Jacob; Morange, Pierre-Emmanuel; Tregoueet, David-Alexandre; Perdry, Herve; Genin, Emmanuelle 分享 收藏
End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy Aloui, Chaker; Herve, Dominique; Marenne, Gaelle; Savenier, Florian; Le Guennec, Kilan; Bergametti, Francoise; Verdura, Edgard; Ludwig, Thomas E.; Lebenberg, Jessica; Jabeur, Waliyde; Morel, Helene; Coste, Thibault; Demarquay, Genevieve; Bachoumas, Panagiotis; Cogez, Julien; Mathey, Guillaume; Bernard, Emilien; Chabriat, Hugues; Genin, Emmanuelle; Tournier-Lasserve, Elisabeth 分享 收藏
Whole exome sequencing, a hypothesis-free approach to investigate recurrent early miscarriage Gourhant, Lenaick; Bocher, Ozvan; De Saint Martin, Luc; Ludwig, Thomas E.; Boland, Anne; Deleuze, Jean F.; Merviel, Philippe; Dupre, Pierre F.; Lemarie, Catherine A.; Couturaud, Francis; Le Marechal, Cedric; Genin, Emmanuelle; Pasquier, Elisabeth 分享 收藏
Sapphire-bearing magmatic rocks trace the boundary between paleo-continents: A case study of Ilmenogorsky alkaline complex, Uralian collision zone of Russia Sorokina, Elena S.; Botcharnikov, Roman E.; Kostitsyn, Yuri A.; Roesel, Delia; Haeger, Tobias; Rassomakhin, Mikhail A.; Kononkova, Nataliya N.; Somsikova, Alina V.; Berndt, Jasper; Ludwig, Thomas; Medvedeva, Elena V.; Hofmeister, Wolfgang 分享 收藏
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Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts Belot, Alexandre; Rice, Gillian, I; Omarjee, Sulloman Ommar; Rouchon, Quentin; Smith, Eve M. D.; Moreews, Marion; Tusseau, Maud; Frachette, Cecile; Bournhonesque, Raphael; Thielens, Nicole; Gaboriaud, Christine; Rouvet, Isabelle; Chopin, Emilie; Hoshino, Akihiro; Latour, Sylvain; Ranchin, Bruno; Cimaz, Rolando; Romagnani, Paula; Malcus, Christophe; Fabien, Nicole; Sarda, Marie-Nathafie; Kassai, Behrouz; Lega, Jean-Christophe; Decramer, Stephan; Abou-Jaoude, Pauline; Bruce, Ian N.; Simonet, Thomas; Bardel, Claire; Rollat-Farrier, Pierre Antoine; Viel, Sebastien; Reumaux, Heloise; O'Sullivan, James; Waizer, Thierry; Mathieu, Anne-Laure; Marenne, Gaelie; Ludwig, Thomas; Genin, Emmanuelle; Ellingford, Jamie; Bader-Meunier, Brigitte; Briggs, Tracy A.; Beresford, Michael W.; Crow, Yanick J. 分享 收藏
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