Search Results - "Bessonova LA"

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  1. 1

    Experience in Molecular Genetic Diagnostics of Birt-Hogg-Dubé Syndrome: Characteristics of Identified Mutations and Evolution of the Methodological Approach.

    Authors: Sermyagina IG Mikhaylenko DS Kuryakova NB et al.

    Source: International journal of molecular sciences [Int J Mol Sci] 2026 May 25; Vol. 27 (11). Date of Electronic Publication: 2026 May 25.

    Publication Type: Journal Article

    Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

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  2. 2

    A rare case of uniparental disomy 9 concomitant with low-level mosaicism for trisomy 9.

    Authors: Iakovleva AS Markova ZG Bessonova LA et al.

    Source: Vavilovskii zhurnal genetiki i selektsii [Vavilovskii Zhurnal Genet Selektsii] 2025 Sep; Vol. 29 (5), pp. 629-635.

    Publication Type: Journal Article

    Journal Info: Publisher: Institut t︠s︡itologii i genetiki Sibirskogo otdelenii︠a︡ Rossiĭskoi akademii nauk Country of Publication: Russia (Federation) NLM ID: 101583566 Publication Model: Print Cited Medium: Print ISSN: 2500-0462 (Print) Linking ISSN: 25003259 NLM ISO Abbreviation: Vavilovskii Zhurnal Genet Selektsii Subsets: PubMed not MEDLINE

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  3. 3

    Genotype-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality.

    Authors: Uhrova Meszarosova A Galiart E Lassuthova P et al.

    Source: Frontiers in medicine [Front Med (Lausanne)] 2026 Jan 08; Vol. 12, pp. 1704209. Date of Electronic Publication: 2026 Jan 08 (Print Publication: 2025).

    Publication Type: Journal Article

    Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101648047 Publication Model: eCollection Cited Medium: Print ISSN: 2296-858X (Print) Linking ISSN: 2296858X NLM ISO Abbreviation: Front Med (Lausanne) Subsets: PubMed not MEDLINE

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  4. 4

    KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.

    Authors: Rudenskaya GE Kadnikova VA Ryzhkova OP et al.

    Source: BMC neurology [BMC Neurol] 2020 Aug 03; Vol. 20 (1), pp. 290. Date of Electronic Publication: 2020 Aug 03.

    Publication Type: Journal Article

    Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

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  5. 5

    Genetic etiology of hearing loss in Russia.

    Authors: Posukh OL; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia, 630090. posukh@bionet.nsc.ru.; Novosibirsk State University, Novosibirsk, Russia, 630090. posukh@bionet.nsc.ru.

    Source: Human genetics [Hum Genet] 2022 Apr; Vol. 141 (3-4), pp. 649-663. Date of Electronic Publication: 2021 Aug 06.

    Publication Type: Journal Article; Review

    Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

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  6. 6

    Illustration of a rare case of hereditary spastic paraplegia type 30 associated with a missense variant in the non-motor domain of KIF1A.

    Authors: Onder H Vural A Duzkale N et al.

    Source: Journal of neurology [J Neurol] 2022 Jun; Vol. 269 (6), pp. 3343-3346. Date of Electronic Publication: 2022 Jan 09.

    Publication Type: Case Reports; Letter

    Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

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  7. 7

    Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.

    Authors: Vecchia SD Tessa A Dosi C et al.

    Source: Journal of neurology [J Neurol] 2022 Jan; Vol. 269 (1), pp. 437-450. Date of Electronic Publication: 2021 Sep 06.

    Publication Type: Journal Article; Multicenter Study; Systematic Review

    Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

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