Hasil Pencarian - Tatyana A Vasilyeva

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  1. 1
    Relative Frequencies of <i>PAX6</i> Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World’s Population and the Human Genome

    Relative Frequencies of <i>PAX6</i> Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World’s Population and the Human Genome oleh Tatyana A. Vasilyeva, Andrey V. Marakhonov, Sergey I. Kutsev, Rena A. Zinchenko

    Diterbitkan 2022-06-01
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  2. 2
    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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  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
    Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients

    Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients oleh Nika V Petrova, Nataliya Y Kashirskaya, Tatyana A Vasilyeva, Elenai I Kondratyeva, Andrey V Marakhonov, Milan Macek Jr, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko

    Diterbitkan 2020-03-01
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  6. 6
    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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  7. 7
    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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  8. 8
    High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients

    High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients oleh Nika V. Petrova, Nataliya Y. Kashirskaya, Tatyana A. Vasilyeva, Natalia V. Balinova, Andrey V. Marakhonov, Elena I. Kondratyeva, Elena K. Zhekaite, Anna Y. Voronkova, Sergey I. Kutsev, Rena A. Zinchenko

    Diterbitkan 2022-04-01
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  9. 9
    Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome

    Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome oleh Andrey V. Marakhonov, Tatyana A. Vasilyeva, Marina E. Minzhenkova, Natella V. Sukhanova, Peter A. Sparber, Natalya A. Andreeva, Margarita V. Teleshova, Fatima K.-M. Baybagisova, Nadezhda V. Shilova, Sergey I. Kutsev, Rena A. Zinchenko

    Diterbitkan 2023-11-01
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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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