Showing 1 - 6 results of 6 for search 'Clara D.M. van Karnebeek', query time: 0.02s
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2022 Overview of Metabolic Epilepsies by Birute Tumiene, Carlos R. Ferreira, Clara D. M. van Karnebeek
Published 2022-03-01
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Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing) by Elise A. Ferreira, Elise A. Ferreira, Mark J. N. Buijs, Mark J. N. Buijs, Robin Wijngaard, Robin Wijngaard, Joost G. Daams, Mareen R. Datema, Marc Engelen, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Machteld M. Oud, Machteld M. Oud, Frédéric M. Vaz, Frédéric M. Vaz, Mirjam M. C. Wamelink, Saskia N. van der Crabben, Mirjam Langeveld
Published 2023-07-01
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De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy by Maja Tarailo‐Graovac, Farah R. Zahir, Irena Zivkovic, Michelle Moksa, Kathryn Selby, Sunita Sinha, Corey Nislow, Sylvia G. Stockler‐Ipsiroglu, Ruth Sheffer, Ann Saada‐Reisch, Jan M. Friedman, Clara D. M. vanKarnebeek, Gabriella A. Horvath
Published 2019-10-01
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The malate-aspartate shuttle is important for de novo serine biosynthesis by Melissa H. Broeks, Nils W.F. Meijer, Denise Westland, Marjolein Bosma, Johan Gerrits, Hannah M. German, Jolita Ciapaite, Clara D.M. van Karnebeek, Ronald J.A. Wanders, Fried J.T. Zwartkruis, Nanda M. Verhoeven-Duif, Judith J.M. Jans
Published 2023-09-01
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