Works matching IS 13646745 AND DT 2020 AND VI 21 AND IP 1
Results: 8
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication.
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- Neurogenetics, 2020, v. 21, n. 1, p. 67, doi. 10.1007/s10048-019-00599-w
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- Article
Customized multigene panels in epilepsy: the best things come in small packages.
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- Neurogenetics, 2020, v. 21, n. 1, p. 1, doi. 10.1007/s10048-019-00598-x
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- Article
Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.
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- Neurogenetics, 2020, v. 21, n. 1, p. 59, doi. 10.1007/s10048-019-00597-y
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- Article
Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family.
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- Neurogenetics, 2020, v. 21, n. 1, p. 51, doi. 10.1007/s10048-019-00595-0
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- Article
The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype.
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- Neurogenetics, 2020, v. 21, n. 1, p. 73, doi. 10.1007/s10048-019-00594-1
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- Article
Infectious stress triggers a POLG-related mitochondrial disease.
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- Neurogenetics, 2020, v. 21, n. 1, p. 19, doi. 10.1007/s10048-019-00593-2
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- Article
A novel cysteine-sparing G73A mutation of NOTCH3 in a Chinese CADASIL family.
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- Neurogenetics, 2020, v. 21, n. 1, p. 39, doi. 10.1007/s10048-019-00592-3
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- Article
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.
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- Neurogenetics, 2020, v. 21, n. 1, p. 29, doi. 10.1007/s10048-019-00596-z
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- Article