Showing 1 - 3 results of 3 for search 'Clara D.M. van Karnebeek', query time: 0.02s
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NAD+ homeostasis in human health and disease by Rubén Zapata‐Pérez, Ronald J A Wanders, Clara D M van Karnebeek, Riekelt H Houtkooper
Published 2021-05-01Get full text
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Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability by Abigail Veldman, Birgit Sikkema-Raddatz, Terry G. J. Derks, Clara D. M. van Karnebeek, M. B. Gea Kiewiet, Margaretha F. Mulder, Marcel R. Nelen, M. Estela Rubio-Gozalbo, Richard J. Sinke, Monique G. de Sain-van der Velden, Gepke Visser, Maaike C. de Vries, Dineke Westra, Monique Williams, Ron A. Wevers, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Published 2024-12-01Get full text
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Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism by Youn Hee Jee, Julian C. Lui, Dana Marafi, Zhi-Jie Xia, Ruchika Bhatia, Elaine Zhou, Isabella Herman, Adrian Temnycky, Philip Whalen, Gene Elliot, Ellen W. Leschek, Robin Wijngaard, Ronald van Beek, Annemarie de Vreugd, Maaike C. de Vries, Clara D.M. van Karnebeek, Machteld M. Oud, Thomas C. Markello, Kevin M. Barnes, Hadil Alrohaif, Hudson H. Freeze, William A. Gahl, May Christine V. Malicdan, Jennifer E. Posey, James R. Lupski, Jeffrey Baron
Published 2025-01-01Get full text
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