Hasil Pencarian - Vitaly V. Kadyshev

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  1. 1
    Co-Occurrence of Congenital Aniridia Due to Nonsense <i>PAX6</i> Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient

    Co-Occurrence of Congenital Aniridia Due to Nonsense <i>PAX6</i> Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient oleh Tatyana A. Vasilyeva, Natella V. Sukhanova, Andrey V. Marakhonov, Natalia Yu. Kuzina, Nadezhda V. Shilova, Vitaly V. Kadyshev, Sergey I. Kutsev, Rena A. Zinchenko

    Diterbitkan 2023-10-01
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  2. 2
    Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in <i>ABCA4</i>-Related Retinal Dystrophy in an Eastern European Population

    Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in <i>ABCA4</i>-Related Retinal Dystrophy in an Eastern European Population oleh Vitaly V. Kadyshev, Ekaterina A. Alekseeva, Vladimir V. Strelnikov, Anna A. Stepanova, Alexander V. Polyakov, Andrey V. Marakhonov, Sergey I. Kutsev, Rena A. Zinchenko

    Diterbitkan 2023-11-01
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  3. 3
    An Unusual Presentation of Novel Missense Variant in <i>PAX6</i> Gene: NM_000280.4:c.341A>G, p.(Asn114Ser)

    An Unusual Presentation of Novel Missense Variant in <i>PAX6</i> Gene: NM_000280.4:c.341A>G, p.(Asn114Ser) oleh Tatyana A. Vasilyeva, Natella V. Sukhanova, Olga V. Khalanskaya, Andrey V. Marakhonov, Nikolai S. Prokhorov, Vitaly V. Kadyshev, Nikolay A. Skryabin, Sergey I. Kutsev, Rena A. Zinchenko

    Diterbitkan 2023-12-01
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  4. 4
    Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders

    Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders oleh Andrey V. Marakhonov, Fedor A. Konovalov, Amin Kh. Makaov, Tatyana A. Vasilyeva, Vitaly V. Kadyshev, Varvara A. Galkina, Elena L. Dadali, Sergey I. Kutsev, Rena A. Zinchenko

    Diterbitkan 2018-02-01
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  5. 5
    Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report

    Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report oleh Tatyana A. Vasilyeva, Andrey V. Marakhonov, Inna S. Tebieva, Vitaly V. Kadyshev, Artem O. Borovikov, Zhanna G. Markova, Alyona L. Chukhrova, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko

    Diterbitkan 2023-02-01
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  6. 6
    Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report

    Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report oleh Andrey V. Marakhonov, Irina A. Mishina, Vitaly V. Kadyshev, Svetlana A. Repina, Maria F. Shurygina, Olga A. Shchagina, Natalya N. Vasserman, Tatyana A. Vasilyeva, Sergey I. Kutsev, Rena A. Zinchenko

    Diterbitkan 2020-10-01
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  7. 7
    Corrigendum: Epidemiology of rare hereditary diseases in the European part of Russia: Point and cumulative prevalence

    Corrigendum: Epidemiology of rare hereditary diseases in the European part of Russia: Point and cumulative prevalence oleh Rena A. Zinchenko, Rena A. Zinchenko, Eugeny K. Ginter, Andrey V. Marakhonov, Nika V. Petrova, Vitaly V. Kadyshev, Tatyana P. Vasilyeva, Oksana U. Alexandrova, Alexander V. Polyakov, Sergey I. Kutsev

    Diterbitkan 2022-09-01
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  8. 8
    Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

    Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence oleh Rena A. Zinchenko, Rena A. Zinchenko, Eugeny K. Ginter, Andrey V. Marakhonov, Nika V. Petrova, Vitaly V. Kadyshev, Tatyana P. Vasilyeva, Oksana U. Alexandrova, Alexander V. Polyakov, Sergey I. Kutsev

    Diterbitkan 2021-08-01
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  9. 9
    The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania

    The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania oleh Sofya A. Ionova, Aysylu F. Murtazina, Andrey A. Marakhonov, Olga A. Shchagina, Nina V. Ryadninskaya, Inna S. Tebieva, Vitaly V. Kadyshev, Artem O. Borovikov, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko

    Diterbitkan 2024-09-01
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  10. 10
    Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis

    Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis oleh Andrey V. Marakhonov, Anna A. Voskresenskaya, Maria Jose Ballesta, Fedor A. Konovalov, Tatyana A. Vasilyeva, Fiona Blanco-Kelly, Nadezhda A. Pozdeyeva, Vitaly V. Kadyshev, Vanesa López-González, Encarna Guillen, Carmen Ayuso, Rena A. Zinchenko, Marta Corton

    Diterbitkan 2020-08-01
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  11. 11
    A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region

    A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region oleh Tatyana A. Vasilyeva, Andrey V. Marakhonov, Marina E. Minzhenkova, Zhanna G. Markova, Nika V. Petrova, Natella V. Sukhanova, Philipp A. Koshkin, Denis V. Pyankov, Ilya V. Kanivets, Sergey A. Korostelev, Irina A. Krynskaya, Nadezhda V. Shilova, Sergey I. Kutsev, Vitaly V. Kadyshev, Rena A. Zinchenko

    Diterbitkan 2020-09-01
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  12. 12
    Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic

    Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic oleh Rena A. Zinchenko, Amin Kh. Makaov, Andrey V. Marakhonov, Varvara A. Galkina, Vitaly V. Kadyshev, Galina I. El’chinova, Elena L. Dadali, Lyudmila K. Mikhailova, Nika V. Petrova, Nina E. Petrina, Tatyana A. Vasilyeva, Polina Gundorova, Alexander V. Polyakov, Oksana Y. Alexandrova, Sergey I. Kutsev, Eugeny K. Ginter

    Diterbitkan 2020-01-01
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