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The diagnostic utility of genetic testing in inherited thrombocytopenia: regional multicenter tertiary experience by Eman Hassan, Carl Fratter, Will Lester, Charles Percy, Walaa Saad, Afrah Alkhedir, Jayashree Motwani, Patricia Bignell, Phillip L.R. Nicolson, Neil V. Morgan, Sandeep Potluri, Gillian Lowe
Published 2025-03-01Get full text
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A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. by Sanjeev Rajakulendran, Robert D S Pitceathly, Jan-Willem Taanman, Harry Costello, Mary G Sweeney, Cathy E Woodward, Zane Jaunmuktane, Janice L Holton, Thomas S Jacques, Brian N Harding, Carl Fratter, Michael G Hanna, Shamima Rahman
Published 2016-01-01Get full text
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Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder by Bobby G. Ng, Erik A. Eklund, Jill A. Rosenfeld, Abdallah F. Elias, Aya Abu-El-Haija, Celine Bris, Magalie Barth, Jong-Hee Chae, Murim Choi, Holly A. Dubbs, Carl Fratter, Nicola Foulds, Candace Gamble, Ralitza H. Gavrilova, Jaclyn Haven, Trevor L. Hoffman, Jill V. Hunter, Austin Larson, Timothy Edward Lotze, Pilar Magoulas, Emily C. Magness, Debra M. Bootin, Eric D. Marsh, Victoria Nesbitt, Matthew T. Pastore, Joanna Poulton, Shamima Rahman, Fernando Scaglia, Chaya Murali, Jennifer Posey, Joshua Rotenberg, Betsy Schmalz, Deepali N. Shinde, Zöe Powis, Rivka Sukenik-Halevy, Kristen V. Truxal, Tami Uster, Matheus Vernet Machado Bressan Wilke, Erik Klee, Hyewon Woo, Donald Younkin, Jianhua Zhao, Jorge Granadillo, Seema Lalani, David Chitayat, Wendy K. Chung, Hudson H. Freeze, Volkan Okur
Published 2025-01-01Get full text
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