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Genetic Analysis of ’PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome 期刊论文
发表期刊: PLOS ONE. 出版年: 2016, 卷号: 11, 期号: 4
作者:  Ansari, Morad;  Rainger, Jacqueline;  Hanson, Isabel M.;  Williamson, Kathleen A.;  Sharkey, Freddie;  Harewood, Louise;  Sandilands, Angela;  Clayton-Smith, Jill;  Dollfus, Helene;  Bitoun, Pierre;  Meire, Francoise;  Fantes, Judy;  Franco, Brunella;  Lorenz, Birgit;  Taylor, David S.;  Stewart, Fiona;  Willoughby, Colin E.;  McEntagart, Meriel;  Khaw, Peng Tee;  Clericuzio, Carol;  Van Maldergem, Lionel;  Williams, Denise;  Newbury-Ecob, Ruth;  Traboulsi, Elias I.;  Silva, Eduardo D.;  Madlom, Mukhlis M.;  Goudie, David R.;  Fleck, Brian W.;  Wieczorek, Dagmar;  Kohlhase, Juergen;  McTrusty, Alice D.;  Gardiner, Carol;  Yale, Christopher;  Moore, Anthony T.;  Russell-Eggitt, Isabelle;  Islam, Lily;  Lees, Melissa;  Beales, Philip L.;  Tuft, Stephen J.;  Solano, Juan B.;  Splitt, Miranda;  Hertz, Jens Michael;  Prescott, Trine E.;  Shears, Deborah J.;  Nischal, Ken K.;  Doco-Fenzy, Martine;  Prieur, Fabienne;  Temple, I. Karen;  Lachlan, Katherine L.;  Damante, Giuseppe;  Morrison, Danny A.;  van Heyningen, Veronica;  FitzPatrick, David R.
收藏  |  浏览/下载：21/0  |  提交时间：2019/11/29
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence 期刊论文
发表期刊: HUMAN MOLECULAR GENETICS. 出版年: 2014, 卷号: 23, 期号: 10, 页码: 2569-2579
作者:  Rainger, Jacqueline K.;  Bhatia, Shipra;  Bengani, Hemant;  Gautier, Philippe;  Rainger, Joe;  Pearson, Matt;  Ansari, Morad;  Crow, Jayne;  Mehendale, Felicity;  Palinkasova, Bozena;  Dixon, Michael J.;  Thompson, Pamela J.;  Matarin, Mar;  Sisodiya, Sanjay M.;  Kleinjan, Dirk A.;  FitzPatrick, David R.
收藏  |  浏览/下载：6/0  |  提交时间：2019/11/29