Works matching IS 13646745 AND DT 2018 AND VI 19 AND IP 1
Results: 8
Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation—causing lactic acidosis, intellectual disability, and poor growth.
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- Neurogenetics, 2018, v. 19, n. 1, p. 49, doi. 10.1007/s10048-018-0537-9
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Monogenic disorders that mimic the phenotype of Rett syndrome.
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- Neurogenetics, 2018, v. 19, n. 1, p. 41, doi. 10.1007/s10048-017-0535-3
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- Article
A novel mutation in <italic>LAMC3</italic> associated with generalized polymicrogyria of the cortex and epilepsy.
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- Neurogenetics, 2018, v. 19, n. 1, p. 61, doi. 10.1007/s10048-017-0534-4
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The contribution of 7q33 copy number variations for intellectual disability.
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- Neurogenetics, 2018, v. 19, n. 1, p. 27, doi. 10.1007/s10048-017-0533-5
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Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis.
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- Neurogenetics, 2018, v. 19, n. 1, p. 1, doi. 10.1007/s10048-017-0532-6
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- Article
First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.
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- Neurogenetics, 2018, v. 19, n. 1, p. 55, doi. 10.1007/s10048-017-0531-7
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Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder.
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- Neurogenetics, 2018, v. 19, n. 1, p. 17, doi. 10.1007/s10048-017-0529-1
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- Article
<italic>ARHGEF9</italic> mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.
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- Neurogenetics, 2018, v. 19, n. 1, p. 9, doi. 10.1007/s10048-017-0528-2
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- Article