Search Results - D. M. Guseva

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  1. 1
    Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317)

    Clinical and genetic characteristics of 2 patients from Russia with autosomal-recessive microcephaly type 2, due to mutations of the WDR62 gene (OMIM: 604317) by D. M. Guseva, E. L. Dadali

    Published 2020-12-01
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  2. 2
    Clinical and genetic characteristics of type 3 lissencephaly caused by a mutation in the TUBA1A gene (OMIM: 611603)

    Clinical and genetic characteristics of type 3 lissencephaly caused by a mutation in the TUBA1A gene (OMIM: 611603) by D. M. Guseva, T. V. Markova, L. A. Bessonova, S. S. Nikitin, E. L. Dadali, O. A. Shchagina

    Published 2021-04-01
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  3. 3
    Clinical and genetic characteristics of ponto-cerebellar hypoplasia caused by mutations in the TSEN54 gene (OMIM: 277470)

    Clinical and genetic characteristics of ponto-cerebellar hypoplasia caused by mutations in the TSEN54 gene (OMIM: 277470) by E. I. Dadali, I. A. Akimova, N. A. Semenova, D. M. Guseva, O. A. Shchagina, A. I. Chukhrova, I. V. Kanivets, S. A. Korostelev

    Published 2019-07-01
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  4. 4
    Phenotypic variability in TRPV4-associated neuropathies and neuronopathies: a case series

    Phenotypic variability in TRPV4-associated neuropathies and neuronopathies: a case series by A. F. Murtazina, P. N. Tsabay, G. E. Rudenskaya, L. A. Bessonova, F. M. Bostanova, D. M. Guseva, I. V. Sharkova, O. A. Shchagina, A. A. Orlova, O. P. Ryzhkova, T. V. Markova, A. S. Kuchina, S. S. Nikitin, E. L. Dadali

    Published 2023-06-01
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