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Evaluation of FMR4, FMR5 and FMR6 Expression Levels as Non-Invasive Biomarkers for the Diagnosis of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) by Maria Isabel Alvarez-Mora, Ines Agusti, Robin Wijngaard, Estefania Martinez-Barrios, Tamara Barcos, Aina Borras, Sara Peralta, Marta Guimera, Ana Goday, Dolors Manau, Laia Rodriguez-Revenga
Published 2022-04-01
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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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Validation of a Gas Chromatography-Mass Spectrometry Method for the Measurement of the Redox State Metabolic Ratios Lactate/Pyruvate and β-Hydroxybutyrate/Acetoacetate in Biologica... by Robin Wijngaard, Meritxell Perramón, Marina Parra-Robert, Susana Hidalgo, Gina Butrico, Manuel Morales-Ruiz, Muling Zeng, Eudald Casals, Wladimiro Jiménez, Guillermo Fernández-Varo, Gerald I. Shulman, Gary W. Cline, Gregori Casals
Published 2021-04-01
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