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Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus 期刊论文
发表期刊: SCIENTIFIC REPORTS. 出版年: 2017, 卷号: 7
作者:  Cipriani, Valentina;  Silva, Raquel S.;  Arno, Gavin;  Pontikos, Nikolas;  Kalhoro, Ambreen;  Valeina, Sandra;  Inashkina, Inna;  Audere, Mareta;  Rutka, Katrina;  Puech, Bernard;  Michaelides, Michel;  van Heyningen, Veronica;  Lace, Baiba;  Webster, Andrew R.;  Moore, Anthony T.
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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.
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