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Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585. doi: 10.1136/jnnp-2018-319578. Epub 2018 Dec 8.
J Neurol Neurosurg Psychiatry. 2019.
PMID: 30530568
Human phenotype caused by biallelic KDM4B frameshift variant.
Takada S, Silva S, Zamorano I, Pérez A, Iwabuchi C, Miyake N.
Takada S, et al.
Clin Genet. 2024 Jan;105(1):72-76. doi: 10.1111/cge.14409. Epub 2023 Aug 1.
Clin Genet. 2024.
PMID: 37526414
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