Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database by Damian May, Kalé Kponee-Shovein, Jeffrey L. Neul, Alan K. Percy, Malena Mahendran, Nathaniel Downes, Grace Chen, Talissa Watson, Dominique C. Pichard, Melissa Kennedy, Patrick Lefebvre

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Human papillomavirus disease in GATA2 deficiency: a genetic predisposition to HPV-associated female anogenital malignancy by Ehren Dancy, Ehren Dancy, Pamela Stratton, Dominique C. Pichard, Beatriz E. Marciano, Edward W. Cowen, Alison A. McBride, Koenraad Van Doorslaer, Koenraad Van Doorslaer, Melissa A. Merideth, Noemi Salmeri, Noemi Salmeri, Marybeth S. Hughes, Theo Heller, Mark Parta, Dennis D. Hickstein, Heidi H. Kong, Steven M. Holland, Christa S. Zerbe

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International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA by Jenny Downs, Dominique C. Pichard, Walter E. Kaufmann, Joseph P. Horrigan, Melissa Raspa, Gillian Townend, Eric D. Marsh, Helen Leonard, Kathleen Motil, Andrew C. Dietz, Nupur Garg, Amitha Ananth, Breanne Byiers, Sarika Peters, Christopher Beatty, Frank Symons, Aleksandra Jacobs, James Youakim, Bernhard Suter, Paramola Santosh, Jeffrey L. Neul, Tim A. Benke

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The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort by Karyl S. Barron, Ivona Aksentijevich, Natalie T. Deuitch, Deborah L. Stone, Patrycja Hoffmann, Ryan Videgar-Laird, Ariane Soldatos, Jenna Bergerson, Camilo Toro, Cornelia Cudrici, Michele Nehrebecky, Tina Romeo, Anne Jones, Manfred Boehm, Jennifer A. Kanakry, Dimana Dimitrova, Katherine R. Calvo, Hawwa Alao, Devika Kapuria, Gil Ben-Yakov, Dominique C. Pichard, Londa Hathaway, Alessandra Brofferio, Elisa McRae, Natalia Sampaio Moura, Oskar Schnappauf, Sofia Rosenzweig, Theo Heller, Edward W. Cowen, Daniel L. Kastner, Amanda K. Ombrello

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