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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2015
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for careBrian T Wilson, Zornitza Stark, Ruth E Sutton, et al.
The Review of Scientific Instruments|September 1, 2014
An upgrade of the magnetic diagnostic system of the DIII-D tokamak for non-axisymmetric measurementsJ D King, E J Strait, R L Boivin, et al.
Plos Neglected Tropical Diseases|December 2, 2024
An experimental target-based platform in yeast for screening Plasmodium vivax deoxyhypusine synthase inhibitorsSuélen Fernandes Silva, Angélica Hollunder Klippel, Sunniva Sigurdardóttir, et al.
Biorxiv : the Preprint Server for Biology|July 18, 2023
β-hydroxybutyrate is a metabolic regulator of proteostasis in the aged and Alzheimer disease brainS S Madhavan, S Roa Diaz, S Peralta, et al.
Journal of Inherited Metabolic Disease|September 1, 2018
Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG diseaseA Papandreou, S Rahman, C Fratter, et al.
Journal of Inherited Metabolic Disease|November 21, 2018
Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG diseaseA Papandreou, S Rahman, C Fratter, et al.
Nature Neuroscience|May 28, 2013
Exome sequencing to identify de novo mutations in sporadic ALS triosAlessandra Chesi, Brett T Staahl, Ana Jovičić, et al.
Biorxiv : the Preprint Server for Biology|November 19, 2025
γδ17 T cell-stromal networks modulate matrix composition and vascularity in foreign body responseAnna Ruta, Kavita Krishnan, JiWon Woo, et al.
Plos Neglected Tropical Diseases|November 15, 2021
Diagnostics to support elimination of lymphatic filariasis-Development of two target product profilesKimberly Y Won, Katherine Gass, Marco Biamonte, et al.
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