檢索結果 - Maria José Simões
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<i>SVEP1</i> as a Genetic Modifier of <i>TEK</i>-Related Primary Congenital Glaucoma 由 Terri L. Young, Kristina N. Whisenhunt, Jing Jin, Sarah M. LaMartina, Sean M. Martin, Tomokazu Souma, Vachiranee Limviphuvadh, Fatemeh Suri, Emmanuelle Souzeau, Xue Zhang, Yongwook Dan, Evie Anagnos, Susana Carmona, Nicole M. Jody, Nickie Stangel, Emily C. Higuchi, Samuel J. Huang, Owen M. Siggs, Maria José Simões, Brendan M. Lawson, Jacob S. Martin, Elahe Elahi, Mehrnaz Narooie-Nejad, Behzad Fallahi Motlagh, Susan E. Quaggin, Heather D. Potter, Eduardo Silva, Jamie E. Craig, Conceição Egas, Reza Maroofian, Sebastian Maurer‐Stroh, Yasmin S. Bradfield, Stuart W. Tompson
出版 2020Artigo -
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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder 由 Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Rolph Pfundt, Bert B.A. de Vries, Richard H. van Jaarsveld, Saskia Hopman, Ellen van Binsbergen, Irene Valenzuela, Maja Hempel, Tatjana Bierhals, Fanny Kortüm, François Lecoquierre, Alice Goldenberg, Jens Michael Hertz, Charlotte Brasch Andersen, Maria Kibæk, Eloise J. Prijoles, Roger E. Stevenson, David B. Everman, Wesley G. Patterson, Linyan Meng, Charul Gijavanekar, Karl De Dios, Shenela Lakhani, Tess Levy, Matias Wagner, Dagmar Wieczorek, Paul J. Benke, María Soledad Lopez Garcia, Renée Perrier, Sérgio B. Sousa, Pedro Almeida, Maria José Simões, Bertrand Isidor, Wallid Deb, Andrew A. Schmanski, Omar Abdul‐Rahman, Christophe Philippe, Ange‐Line Bruel, Laurence Faivre, Antonio Vitobello, Christel Thauvin, Jeroen J. Smits, Livia Garavelli, Stefano Giuseppe Caraffi, Francesca Peluso, Laura Davis‐Keppen, Dylan Platt, Erin Royer, Lisette Leeuwen, Margje Sinnema, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, George E. Tiller, Daniëlle G.M. Bosch, Stephanus T. Potgieter, Shelagh Joss, Miranda Splitt, Simon Holden, Matina Prapa, Nicola Foulds, Sofia Douzgou, Kaija Puura, Regina Waltes, Andreas G. Chiocchetti, Christine M. Freitag, F. Kyle Satterstrom, Silvia De Rubeis, Joseph D. Buxbaum, Bruce D. Gelb, Branko Aleksić, Itaru Kushima, Jennifer Howe, Stephen W. Scherer, Alessia Arado, Chiara Baldo, Olivier Patat, Demeer Bénédicte, Diego Lopergolo, Filippo M. Santorelli, Tobias B. Haack, Andreas Dufke, Miriam Bertrand, Ruth Falb, Angelika Rieß, Peter Krieg, Stephanie Spranger, Maria Francesca Bedeschi, Maria Iascone, Sarah Josephi‐Taylor, Tony Roscioli, Michael F. Buckley, Jan Liebelt, Aditi I Dagli, Emmelien Aten, Anna Hurst, Alesha Hicks
出版 2023Artigo
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