Showing 1 - 5 results of 5 for search 'Audrey Thurm', query time: 0.01s
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O03: Hydroxocobalamin (OHCbl) dose intensification can prevent visual deterioration and improve neurological and biochemical outcomes in CBLC deficiency by Charles Venditti, Jennifer Sloan, Wadih Zein, Audrey Thurm, Camryn Hall, Carol Van Ryzin, Susan Ferry, Abigael Gebremariam, Jennifer Myles, Laryssa Huryn, Brian Brooks, Irini Manoli
Published 2025-01-01Get full text
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Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns by Hailey Silver, Rori Greenberg, Paige M. Siper, Jessica Zweifach, Renee Soufer, Mustafa Sahin, Elizabeth Berry-Kravis, Latha Valluripalli Soorya, Audrey Thurm, Jonathan A. Bernstein, Alexander Kolevzon, Dorothy E. Grice, Joseph D. Buxbaum, Tess Levy
Published 2025-04-01Get full text
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The interplay between brain and behavior during development: A multisite effort to generate and share simulated datasets by Neda Sadeghi, Isabelle F. van der Velpen, Bradley T. Baker, Ishaan Batta, Kyle J. Cahill, Sarah Genon, Ethan McCormick, Léa C. Michel, Dustin Moraczewski, Masoud Seraji, Philip Shaw, Rogers F. Silva, Najme Soleimani, Emma Sprooten, Øystein Sørensen, Adam G. Thomas, Audrey Thurm, Zi-Xuan Zhou, Vince D. Calhoun, Rogier Kievit, Anna Plachti, Xi-Nian Zuo, Tonya White
Published 2025-03-01Get full text
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Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency by Zahra Nasseri Moghaddam, Emily K. Reinhardt, Audrey Thurm, Beth K. Potter, Maureen Smith, Celeste Graham, Beth H. Tiller, Steven A. Baker, Deborah A. Bilder, Regina Bogar, Jacobus Britz, Rachel Cafferty, Daniel P. Coller, Ton J. DeGrauw, Vicky Hall, Gerald S. Lipshutz, Nicola Longo, Saadet Mercimek-Andrews, Judith S. Miller, Marzia Pasquali, Gajja S. Salomons, Andreas Schulze, Celine P. Wheaton, Kayla F. Williams, Sarah P. Young, Jasmine Li, Sofia Balog, Theresa Selucky, Sylvia Stöckler-Ipsiroglu, Heidi Wallis
Published 2025-08-01Get full text
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Systematic phenotype and genotype characterization of Moebius syndrome by Bryn D. Webb, Julie A. Jurgens, Narisu Narisu, Zhongyang Zhang, Brenda J. Barry, Carol Van Ryzin, Lori L. Bonnycastle, Wai-Man Chan, Tingfen Yan, Silvio Alessandro Di Gioia, Amy J. Swift, Sarah E. MacKinnon, Darren T. Oystreck, Janet C. Rucker, Tamiesha Frempong, Mary C. Whitman, Edmond J. FitzGibbon, Janice S. Lee, Ke Hao, Caroline Andrews, Monica Erazo, Flavia M. Facio, Sherin Shaaban, Thomas P. Naidich, Peter S. Chines, Tanya J. Lehky, Camilo Toro, Andrea L. Gropman, John A. Butman, Christopher K. Zalewski, Carmen C. Brewer, Audrey Thurm, Joseph Snow, Scott M. Paul, Brian P. Brooks, Carlo Pierpaoli, Caroline D. Robson, David G. Hunter, Francis S. Collins, Ethylin Wang Jabs, Elizabeth C. Engle, Irini Manoli
Published 2025-01-01Get full text
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