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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.
收藏  |  浏览/下载：26/0  |  提交时间：2019/11/29
Disorders of sex development  Gonad  Testis  Ovaries  Ovotestes  Massively parallel sequencing  MPS  Cohort  Targeted gene panel  Genetic diagnosis  Variant  Mutation  
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation 期刊论文
发表期刊: AMERICAN JOURNAL OF HUMAN GENETICS. 出版年: 2005, 卷号: 76, 期号: 2, 页码: 227-236
作者:  Jensen, LR;  Amende, M;  Gurok, U;  Moser, B;  Gimmel, V;  Tzschach, A;  Janecke, AR;  Tariverdian, G;  Chelly, J;  Fryns, JP;  Van Esch, H;  Kleefstra, T;  Hamel, B;  Moraine, C;  Gecz, J;  Turner, G;  Reinhardt, R;  Kalscheuer, VM;  Ropers, HH;  Lenzner, S
收藏  |  浏览/下载：5/0  |  提交时间：2019/11/28