Publications by authors named "E Roeder"

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PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Aymeric Masson, Julien Paccaud, Martina Orefice, Estelle Colin, Outi Mäkitie, Elizabeth R Roeder

J Clin Invest· November 2025

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Benchmarking open-source large language models on Portuguese Revalida multiple-choice questions.
João Victor Bruneti Severino, Pedro Angelo Basei de Paula, Matheus Nespolo Berger, Filipe Silveira Loures, Solano Amadori Todeschini, Eduardo Augusto Roeder

BMJ Health Care Inform· February 2025

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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth R Roeder

Eur J Hum Genet· August 2024

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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth R Roeder

Eur J Hum Genet· August 2024

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Assessment of a one-week ketogenic diet on brain glycolytic metabolism and on the status epilepticus stage of a lithium-pilocarpine rat model.
Matthieu Doyen, Clémentine Lambert, Emilie Roeder, Henri Boutley, Bailiang Chen

Sci Rep· March 2024

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