Works matching IS 13646745 AND DT 2022 AND VI 23 AND IP 3
Results: 6
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.
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- Neurogenetics, 2022, v. 23, n. 3, p. 187, doi. 10.1007/s10048-022-00690-9
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- Article
Genetic analysis of 18 families with tuberous sclerosis complex.
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- Neurogenetics, 2022, v. 23, n. 3, p. 223, doi. 10.1007/s10048-022-00694-5
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- Article
Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease.
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- Neurogenetics, 2022, v. 23, n. 3, p. 213, doi. 10.1007/s10048-022-00693-6
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- Article
A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder.
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- Neurogenetics, 2022, v. 23, n. 3, p. 203, doi. 10.1007/s10048-022-00692-7
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- Article
Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability.
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- Neurogenetics, 2022, v. 23, n. 3, p. 179, doi. 10.1007/s10048-022-00691-8
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- Article
Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.
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- Neurogenetics, 2022, v. 23, n. 3, p. 167, doi. 10.1007/s10048-022-00688-3
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- Article