Works matching AU Kozina, Anastasiya A.
Results: 7
Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1228
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- Publication type:
- Article
A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene.
- Published in:
- Journal of International Medical Research, 2023, v. 51, n. 10, p. 1, doi. 10.1177/03000605231206294
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- Article
Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot–Marie–Tooth disease in a Russian family: a case report.
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- Journal of International Medical Research, 2022, v. 50, n. 12, p. 1, doi. 10.1177/03000605221139718
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- Publication type:
- Article
A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0669-7
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- Publication type:
- Article
Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report.
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- 2019
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- Publication type:
- journal article
Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01119-6
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- Publication type:
- Article
Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation.
- Published in:
- Clinical Case Reports, 2018, v. 6, n. 9, p. 1871, doi. 10.1002/ccr3.1678
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- Publication type:
- Article