Search Results - E. L. Dadali

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  1. 1
    Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation

    Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation by I. V. Sharkova, E. L. Dadali

    Published 2018-04-01
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  2. 2
    Clinical and genetic characteristics and an algorithm for the differential diagnosis of progressive muscular dystrophies that manifest after a period of normal motor development

    Clinical and genetic characteristics and an algorithm for the differential diagnosis of progressive muscular dystrophies that manifest after a period of normal motor development by I. V. Sharkova, E. L. Dadali

    Published 2023-03-01
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  3. 3
    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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  4. 4
    Diagnostic criteria for spinal muscular atrophy 5q

    Diagnostic criteria for spinal muscular atrophy 5q by I. V. Sharkova, E. L. Dadali, S. S. Nikitin

    Published 2021-12-01
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  5. 5
    Aymé–Gripp syndrome in a Russian patient with a newly detected mutation in the MAF gene

    Aymé–Gripp syndrome in a Russian patient with a newly detected mutation in the MAF gene by E. L. Dadali, T. V. Markova, O. P. Ryzhkova

    Published 2021-12-01
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  6. 6
    Genetic heterogeneity of hereditary diseases of nervous system: problems and solutions

    Genetic heterogeneity of hereditary diseases of nervous system: problems and solutions by E. L. Dadali, E. K. Ginter, A. B. Polyakov

    Published 2015-02-01
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  7. 7
    Proximal spinal muscular atrophy types I-IV: Specific features of molecular genetic diagnosis

    Proximal spinal muscular atrophy types I-IV: Specific features of molecular genetic diagnosis by V. V. Zabnenkova, E. L. Dadali, A. V. Polyakov

    Published 2015-02-01
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  8. 8
    Clinical and genetic characteristics of primary hypertrophic osteoarthropathy

    Clinical and genetic characteristics of primary hypertrophic osteoarthropathy by E. L. Dadali, T. V. Markova, V. M. Kenis, T. S. Nagornova, S. S. Nikitin

    Published 2023-06-01
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  9. 9
    New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2

    New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2 by E. L. Dadali, I. V. Sharkova, S. S. Nikitin, F. A. Konovalov

    Published 2016-07-01
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  10. 10
    Stiff-person syndrome with early onset in infancy

    Stiff-person syndrome with early onset in infancy by S. A. Malmberg, E. L. Dadali, D. B. Jumakchanov, A. Kch. Djaksibaeva

    Published 2015-06-01
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  11. 11
    Spinal muscular atrophy with lower limbs phenotype: clinical and genetic description of novel mutation in the DYNC1H1 gene

    Spinal muscular atrophy with lower limbs phenotype: clinical and genetic description of novel mutation in the DYNC1H1 gene by E. L. Dadali, S. S. Nikitin, F. A. Konovalov, I. A. Akimova, S. A. Korostelev

    Published 2018-07-01
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  12. 12
    Clinical and genetic characteristics and diagnosis of hereditary variants of neonatal epilepsy

    Clinical and genetic characteristics and diagnosis of hereditary variants of neonatal epilepsy by N. A. Semenova, E. L. Dadali, A. A. Sharkov, I. A. Akimova

    Published 2017-11-01
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  13. 13
    Gillespiе syndrome, caused by previously undescribed mutation in the gene <i>ITPR1<i>

    Gillespiе syndrome, caused by previously undescribed mutation in the gene <i>ITPR1<i> by I. V. Sharkova, I. A. Akimova, O. V. Khlebnikova, E. L. Dadali

    Published 2019-05-01
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  14. 14
    Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the <i>NR2F1</i> gene

    Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the <i>NR2F1</i> gene by E. L. Dadali, A. O. Borovikov, O. A. Shchagina, O. L. Mironovich

    Published 2020-12-01
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  15. 15
    Comparative analysis of features phenotype limb-girdle muscular dystrophy 2А and 2I types

    Comparative analysis of features phenotype limb-girdle muscular dystrophy 2А and 2I types by I. V. Sharkova, E. L. Dadali, O. P. Ryzhkova, V. N. Evdokimenkov

    Published 2015-02-01
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  16. 16
    Clinical and genetic characteristics of new allele variants of the Mowat–Wilson syndrome caused by ZEB2 gene mutations

    Clinical and genetic characteristics of new allele variants of the Mowat–Wilson syndrome caused by ZEB2 gene mutations by I. A. Akimova, T. V. Markova, F. A. Konovalov, A. V. Antonets, E. L. Dadali

    Published 2018-10-01
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  17. 17
    Clinical and genetic characteristics of X-linked mental retardation 102 type caused by novel mutations in the DDX3X gene (OMIM:300958)

    Clinical and genetic characteristics of X-linked mental retardation 102 type caused by novel mutations in the DDX3X gene (OMIM:300958) by E. L. Dadali, T. V. Markova, O. A. Levchenko, A. L. Chukhrova, O. A. Shchagina

    Published 2020-06-01
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  18. 18
    Phenotype expansion, or double trouble: the combination of congenital disorder of glycosylation type 1i and Joubert syndrome type 17

    Phenotype expansion, or double trouble: the combination of congenital disorder of glycosylation type 1i and Joubert syndrome type 17 by M. V. Sharova, T. V. Markova, A. L. Chukhrova, O. A. Shchagina, E. L. Dadali

    Published 2025-04-01
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  19. 19
    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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  20. 20
    Clinical and genetic characteristics of distal arthrogryposis caused by mutations in the PIEZO2 gene

    Clinical and genetic characteristics of distal arthrogryposis caused by mutations in the PIEZO2 gene by T. V. Markova, E. L. Dadali, S. S. Nikitin, A.  F . Murtazina, O. L.  Mironovich, I.  V.   Kanivets

    Published 2021-09-01
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