Found: 8
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Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 1, p. 24, doi. 10.1038/jhg.2013.111
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- Article
Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1-3.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1382410
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- Publication type:
- Article
Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy.
- Published in:
- Journal of Molecular Neuroscience, 2021, v. 71, n. 1, p. 112, doi. 10.1007/s12031-020-01631-7
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- Article
Comparative Study on Exponentially Weighted Moving Average Approaches for the Self-Starting Forecasting.
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- Applied Sciences (2076-3417), 2020, v. 10, n. 20, p. 7351, doi. 10.3390/app10207351
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- Article
Two novel mutations in the ANTXR2 gene in a Chinese patient suffering from hyaline fibromatosis syndrome: A case report.
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- Molecular Medicine Reports, 2018, v. 18, n. 4, p. 4004, doi. 10.3892/mmr.2018.9421
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- Article
X-linked ichthyosis and Crigler-Najjar syndrome?: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3.
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- Molecular Medicine Reports, 2016, v. 13, n. 2, p. 1135, doi. 10.3892/mmr.2015.4674
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- Article
Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 10, p. 1635, doi. 10.1093/hmg/ddab350
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- Article
The Natural History of Infant Spinal Muscular Atrophy in China: A Study of 237 Patients.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 4, p. 471, doi. 10.1177/0883073811420152
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- Article