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Editorial for the special collection: frontiers in rare disease genetics by Murim Choi
Published 2025-03-01Get full text
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Interaction effect between NAFLD severity and high carbohydrate diet on gut microbiome alteration and hepatic de novo lipogenesis by Hyena Kang, Hyun Ju You, Giljae Lee, Seung Hyun Lee, Taekyeong Yoo, Murim Choi, Sae Kyung Joo, Jeong Hwan Park, Mee Soo Chang, Dong Hyeon Lee, Won Kim, GwangPyo Ko
Published 2022-12-01Get full text
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Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders by Jihoon G. Yoon, Hyunsoo Jang, Seungbok Lee, Se Song Jang, Soojin Park, Jaeso Cho, Minji Kim, Jiye Han, Hyounji Yun, Man Jin Kim, Soo Yeon Kim, Woo Joong Kim, Anna Cho, Jin Sook Lee, Murim Choi, Alberto Fernandez-Jaen, Sebastian Silva, Reinaldo Uribe-San-Martín, Christian Cantillano, Noriko Miyake, Byung Chan Lim, Jung Min Ko, Ki Joong Kim, Ki-Jun Yoon, Jong-Hee Chae
Published 2025-08-01Get 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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