Works matching IS 13646745 AND DT 2019 AND VI 20 AND IP 3
Results: 6
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings.
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- Neurogenetics, 2019, v. 20, n. 3, p. 165, doi. 10.1007/s10048-019-00582-5
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- Article
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
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- Neurogenetics, 2019, v. 20, n. 3, p. 145, doi. 10.1007/s10048-019-00581-6
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- Article
Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12.
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- Neurogenetics, 2019, v. 20, n. 3, p. 161, doi. 10.1007/s10048-019-00580-7
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- Article
A novel CSF-1R mutation in a family with hereditary diffuse leukoencephalopathy with axonal spheroids misdiagnosed as hydrocephalus.
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- Neurogenetics, 2019, v. 20, n. 3, p. 155, doi. 10.1007/s10048-019-00579-0
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- Article
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.
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- Neurogenetics, 2019, v. 20, n. 3, p. 117, doi. 10.1007/s10048-019-00576-3
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- Article
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.
- Published in:
- Neurogenetics, 2019, v. 20, n. 3, p. 129, doi. 10.1007/s10048-019-00578-1
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- Article