Works matching IS 13646745 AND DT 2022 AND VI 23 AND IP 2
Results: 8
Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort.
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- Neurogenetics, 2022, v. 23, n. 2, p. 137, doi. 10.1007/s10048-022-00689-2
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Experiences in the molecular genetic and histopathological evaluation of calpainopathies.
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- Neurogenetics, 2022, v. 23, n. 2, p. 103, doi. 10.1007/s10048-022-00687-4
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An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation.
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- Neurogenetics, 2022, v. 23, n. 2, p. 129, doi. 10.1007/s10048-022-00686-5
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A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature.
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- Neurogenetics, 2022, v. 23, n. 2, p. 85, doi. 10.1007/s10048-022-00685-6
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Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.
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- Neurogenetics, 2022, v. 23, n. 2, p. 115, doi. 10.1007/s10048-022-00684-7
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- Article
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration.
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- Neurogenetics, 2022, v. 23, n. 2, p. 151, doi. 10.1007/s10048-022-00683-8
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A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review.
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- Neurogenetics, 2022, v. 23, n. 2, p. 157, doi. 10.1007/s10048-021-00682-1
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- Article
Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations.
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- Neurogenetics, 2022, v. 23, n. 2, p. 91, doi. 10.1007/s10048-021-00680-3
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- Article