Showing 1 - 3 results of 3 for search 'Vijay S. Ganesh', query time: 0.01s
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Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause by Sonali Patel, Muhammad Zain-ul-abideen, Genevieve Guyol, Lance H. Rodan, Casie A. Genetti, Amy Z. Ren, Philip Connors, Patricia Davenport, Ruby Bartolome, Inderneel Sahai, Vijay S. Ganesh, Monica H. Wojcik
Published 2025-06-01Get full text
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Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation by Johanna Ranta‐aho, Kevin J. Felice, Per Harald Jonson, Jaakko Sarparanta, Cédric Yvorel, Ines Harzallah, Renaud Touraine, Lynn Pais, Christina A. Austin‐Tse, Vijay S. Ganesh, Melanie C. O'Leary, Heidi L. Rehm, Michael K. Hehir, Sub Subramony, Qian Wu, Bjarne Udd, Marco Savarese
Published 2024-09-01Get full text
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BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy by Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B Cummings, Ying Hu, Rosemarie Smith, Prech Uapinyoying, Vijay S Ganesh, Partha S Ghosh, Kristin G Monaghan, Seby L Edassery, Pia E Ferle, Sarah Silverstein, Katherine R Chao, Molly Snyder, Sara Ellingwood, Diana Bharucha‐Goebel, Susan T Iannaccone, Matteo Dal Peraro, A Reghan Foley, Jeffrey N Savas, Véronique Bolduc, Dirk Fasshauer, Carsten G Bönnemann, Michael Schwake
Published 2021-11-01Get full text
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