Publications by authors named "J Pavaine"

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Brain Magnetic Resonance Imaging of Children With Molybdenum Cofactor Deficiency.
B C Schwahn, R Sinha, J A M Wright, J Pavaine

J Inherit Metab Dis· September 2025

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Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.
Bernd C Schwahn, Francjan van Spronsen, Albert Misko, Julija Pavaine, Victoria Holmes

J Inherit Metab Dis· July 2024

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The Brain Tumor Segmentation (BraTS) Challenge 2023: .
Anahita Fathi Kazerooni, Nastaran Khalili, Xinyang Liu, Debanjan Haldar, Zhifan Jiang, Julija Pavaine

ArXiv· May 2024

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Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy.
Spatikha Sitaram, Hetalika C Banka, Grace Vassallo, Julija Pavaine, Adele Fairclough

Am J Med Genet A· January 2023

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Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.
Federico Raviglione, Sofia Douzgou, Marcello Scala, Alessia Mingarelli, Stefano D'Arrigo, Julija Pavaine

Seizure· May 2021

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