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Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort 期刊论文
发表期刊: GENOME BIOLOGY. 出版年: 2016, 卷号: 17
作者:  Eggers, Stefanie;  Sadedin, Simon;  van den Bergen, Jocelyn A.;  Robevska, Gorjana;  Ohnesorg, Thomas;  Hewitt, Jacqueline;  Lambeth, Luke;  Bouty, Aurore;  Knarston, Ingrid M.;  Tiong Yang Tan;  Cameron, Fergus;  Werther, George;  Hutson, John;  O’Connell, Michele;  Grover, Sonia R.;  Heloury, Yves;  Zacharin, Margaret;  Bergman, Philip;  Kimber, Chris;  Brown, Justin;  Webb, Nathalie;  Hunter, Matthew F.;  Srinivasan, Shubha;  Titmuss, Angela;  Verge, Charles F.;  Mowat, David;  Smith, Grahame;  Smith, Janine;  Ewans, Lisa;  Shalhoub, Carolyn;  Crock, Patricia;  Cowell, Chris;  Leong, Gary M.;  Ono, Makato;  Lafferty, Antony R.;  Huynh, Tony;  Visser, Uma;  Choong, Catherine S.;  McKenzie, Fiona;  Pachter, Nicholas;  Thompson, Elizabeth M.;  Couper, Jennifer;  Baxendale, Anne;  Gecz, Jozef;  Wheeler, Benjamin J.;  Jefferies, Craig;  MacKenzie, Karen;  Hofman, Paul;  Carter, Philippa;  King, Richard I.;  Krausz, Csilla;  van Ravenswaaij-Arts, Conny M. A.;  Looijenga, Leendert;  Drop, Sten;  Riedl, Stefan;  Cools, Martine;  Dawson, Angelika;  Juniarto, Achmad Zulfa;  Khadilkar, Vaman;  Khadilkar, Anuradha;  Bhatia, Vijayalakshmi;  Vu Chi Dung;  Atta, Irum;  Raza, Jamal;  Nguyen Thi Diem Chi;  Tran Kiem Hao;  Harley, Vincent;  Koopman, Peter;  Warne, Garry;  Faradz, Sultana;  Oshlack, Alicia;  Ayers, Katie L.;  Sinclair, Andrew H.
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Disorders of sex development  Gonad  Testis  Ovaries  Ovotestes  Massively parallel sequencing  MPS  Cohort  Targeted gene panel  Genetic diagnosis  Variant  Mutation  
Common Genetic Variation in the 3 ’-BCL11B Gene Desert Is Associated With Carotid-Femoral Pulse Wave Velocity and Excess Cardiovascular Disease Risk The AortaGen Consortium 期刊论文
发表期刊: CIRCULATION-CARDIOVASCULAR GENETICS. 出版年: 2012, 卷号: 5, 期号: 1, 页码: 81-90
作者:  Mitchell, Gary F.;  Verwoert, Germaine C.;  Tarasov, Kirill V.;  Isaacs, Aaron;  Smith, Albert V.;  Yasmin;  Rietzschel, Ernst R.;  Tanaka, Toshiko;  Liu, Yongmei;  Parsa, Afshin;  Najjar, Samer S.;  O’shaughnessy, Kevin M.;  Sigurdsson, Sigurdur;  De Buyzere, Marc L.;  Larson, Martin G.;  Sie, Mark P. S.;  Andrews, Jeanette S.;  Post, Wendy S.;  Mattace-Raso, Francesco U. S.;  McEniery, Carmel M.;  Eiriksdottir, Gudny;  Segers, Patrick;  Vasan, Ramachandran S.;  van Rijn, Marie Josee E.;  Howard, Timothy D.;  McArdle, Patrick F.;  Dehghan, Abbas;  Jewell, Elizabeth S.;  Newhouse, Stephen J.;  Bekaert, Sofie;  Hamburg, Naomi M.;  Newman, Anne B.;  Hofman, Albert;  Scuteri, Angelo;  De Bacquer, Dirk;  Ikram, Mohammad Arfan;  Psaty, Bruce M.;  Fuchsberger, Christian;  Olden, Matthias;  Wain, Louise V.;  Elliott, Paul;  Smith, Nicholas L.;  Felix, Janine F.;  Erdmann, Jeanette;  Vita, Joseph A.;  Sutton-Tyrrell, Kim;  Sijbrands, Eric J. G.;  Sanna, Serena;  Launer, Lenore J.;  De Meyer, Tim;  Johnson, Andrew D.;  Schut, Anna F. C.;  Herrington, David M.;  Rivadeneira, Fernando;  Uda, Manuela;  Wilkinson, Ian B.;  Aspelund, Thor;  Gillebert, Thierry C.;  Van Bortel, Luc;  Benjamin, Emelia J.;  Oostra, Ben A.;  Ding, Jingzhong;  Gibson, Quince;  Uitterlinden, Andre G.;  Abecasis, Goncalo R.;  Cockcroft, John R.;  Gudnason, Vilmundur;  De Backer, Guy G.;  Ferrucci, Luigi;  Harris, Tamara B.;  Shuldiner, Alan R.;  van Duijn, Cornelia M.;  Levy, Daniel;  Lakatta, Edward G.;  Witteman, Jacqueline C. M.
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aorta  arterial stiffness  pulse wave velocity  genetics  cardiovascular disease