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Molecular Genetics and Metabolism|August 23, 2015
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trialsSandesh C S Nagamani, George A Diaz, William Rhead, et al.
Plos One|January 13, 2022
Baseline procalcitonin as a predictor of bacterial infection and clinical outcomes in COVID-19: A case-control studyNatalie J Atallah, Hailey M Warren, Matthew B Roberts, et al.
JCI Insight|October 15, 2020
A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editingErik A Koppes, Bethany K Redel, Marie A Johnson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorderBrendan Lee, George A Diaz, William Rhead, et al.
Oncotarget|April 9, 2016
Medulloblastoma-associated DDX3 variant selectively alters the translational response to stressSekyung Oh, Ryan A Flynn, Stephen N Floor, et al.
Haematologica|May 6, 2022
Focal structural variants revealed by whole genome sequencing disrupt the histone demethylase KDM4C in B-cell lymphomasCristina Lopez, Nikolai Schleussner, Stephan H Bernhart, et al.
ESMO Open|November 24, 2022
COGNITION: a prospective precision oncology trial for patients with early breast cancer at high risk following neoadjuvant chemotherapyC Pixberg, M Zapatka, M Hlevnjak, et al.
Investigative Ophthalmology & Visual Science|June 5, 2012
Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortiaMegan Ulmer, Jun Li, Brian L Yaspan, et al.
Hepatology (Baltimore, Md.)|September 11, 2012
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrateGeorge A Diaz, Lauren S Krivitzky, Masoud Mokhtarani, et al.
Nature Communications|August 7, 2025
Integrative multi-omics reveals a regulatory and exhausted T-cell landscape in CLL and identifies galectin-9 as an immunotherapy targetL Llaó-Cid, Jkl Wong, I Fernandez Botana, et al.
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