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Paternal gender specificity and mild phenotypes in Charcot–Marie–Tooth type 1A patients with de novo 17p12 rearrangements.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1380
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- Article
Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot‐Marie‐Tooth disease family.
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- Journal of the Peripheral Nervous System, 2018, v. 23, n. 1, p. 60, doi. 10.1111/jns.12249
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- Article
Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.
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- Journal of the Peripheral Nervous System, 2017, v. 22, n. 3, p. 172, doi. 10.1111/jns.12217
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- Article
X-linked Charcot-Marie-Tooth disease type 6 ( CMTX6) patients with a p. R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene.
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- Journal of the Peripheral Nervous System, 2016, v. 21, n. 1, p. 45, doi. 10.1111/jns.12160
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- Article
A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
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- Journal of the Peripheral Nervous System, 2014, v. 19, n. 2, p. 175, doi. 10.1111/jns5.12062
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- Article
Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations.
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- Journal of the Peripheral Nervous System, 2011, v. 16, n. 2, p. 143, doi. 10.1111/j.1529-8027.2011.00329.x
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- Article