نتائج البحث - Alison E. Gardner

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment حسب Rudrarup Bhattacharjee, Lachlan A. Jolly, Mark A. Corbett, Ing Chee Wee, Sushma R. Rao, Alison E. Gardner, Tarin Ritchie, Eline J. H. van Hugte, Ummi Ciptasari, Sandra Piltz, Jacqueline E. Noll, Nazzmer Nazri, Clare L. van Eyk, Melissa White, Dani Fornarino, Cathryn Poulton, Gareth Baynam, Lyndsey E. Collins-Praino, Marten F. Snel, Nael Nadif Kasri, Kim M. Hemsley, Paul Q. Thomas, Raman Kumar, Jozef Gecz

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Missense variant contribution to USP9X-female syndrome حسب Lachlan A. Jolly, Euan Parnell, Alison E. Gardner, Mark A. Corbett, Luis A. Pérez-Jurado, Marie Shaw, Gaetan Lesca, Catherine Keegan, Michael C. Schneider, Emily Griffin, Felicitas Maier, Courtney Kiss, Andrea Guerin, Kathleen Crosby, Kenneth Rosenbaum, Pranoot Tanpaiboon, Sandra Whalen, Boris Keren, Julie McCarrier, Donald Basel, Simon Sadedin, Susan M. White, Martin B. Delatycki, Tjitske Kleefstra, Sébastien Küry, Alfredo Brusco, Elena Sukarova-Angelovska, Slavica Trajkova, Sehoun Yoon, Stephen A. Wood, Michael Piper, Peter Penzes, Jozef Gecz

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Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor حسب Raman Kumar, Elizabeth Palmer, Elizabeth Palmer, Alison E. Gardner, Renee Carroll, Siddharth Banka, Siddharth Banka, Ola Abdelhadi, Dian Donnai, Dian Donnai, Ype Elgersma, Ype Elgersma, Cynthia J. Curry, Alice Gardham, Mohnish Suri, Rishikesh Malla, Lauren Ilana Brady, Mark Tarnopolsky, Dimitar N. Azmanov, Dimitar N. Azmanov, Vanessa Atkinson, Vanessa Atkinson, Michael Black, Michael Black, Gareth Baynam, Lauren Dreyer, Lauren Dreyer, Robin Z. Hayeems, Christian R. Marshall, Gregory Costain, Marja W. Wessels, Julia Baptista, James Drummond, Melanie Leffler, Michael Field, Jozef Gecz, Jozef Gecz

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