Showing 1 - 3 results of 3 for search 'Susan M. White', query time: 0.03s
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PIEZO1 mechanical insensitivity in generalized lymphatic dysplasia with the potential for pharmacological rescue by Melanie J. Ludlow, Oleksandr V. Povstyan, Deborah M. Linley, Silvia Martin-Almedina, Charlotte Revill, Kevin Cuthbertson, Katie A. Smith, Emily Fay, Elisavet Fotiou, Andrew Bush, Claire Hogg, Tobias Linden, Natalie B. Tan, Susan M. White, Juan C. Del Rey Jimenez, Ege Sackey, Esther Dempsey, Sahar Mansour, Gregory Parsonage, Antreas C. Kalli, Richard Foster, Pia Ostergaard, David J. Beech
Published 2025-08-01Get full text
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International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease by Katherine B. Howell, Susan M. White, Amy McTague, Alissa M. D’Gama, Gregory Costain, Annapurna Poduri, Ingrid E. Scheffer, Vann Chau, Lindsay D. Smith, Sarah E. M. Stephenson, Monica Wojcik, Andrew Davidson, Neil Sebire, Piotr Sliz, Alan H. Beggs, Lyn S. Chitty, Ronald D. Cohn, Christian R. Marshall, Nancy C. Andrews, Kathryn N. North, J. Helen Cross, John Christodoulou, Stephen W. Scherer
Published 2025-02-01Get full text
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Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases by Sarah L. Stenton, Kristen Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia, Ikeoluwa Osei-Owusu, Lynn Pais, Emily O’Heir, Christina Austin-Tse, Melanie O’Leary, Mayada Abu Shanap, Chelsea Barrows, Seth Berger, Carsten G. Bönnemann, Kinga M. Bujakowska, Dean R. Campagna, Alison G. Compton, Sandra Donkervoort, Mark D. Fleming, Lyndon Gallacher, Joseph G. Gleeson, Goknur Haliloglu, Eric A. Pierce, Emily M. Place, Vijay G. Sankaran, Akiko Shimamura, Zornitza Stark, Tiong Yang Tan, David R. Thorburn, Susan M. White, Maha S. Zaki, Eric Vilain, Monkol Lek, Heidi L. Rehm, Anne O’Donnell-Luria
Published 2025-07-01Get full text
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