Search Results - Voskoboeva, Elena

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  1. 1
    Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization

    Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization by Voskoboeva, Elena, Semyachkina, Alla, Yablonskaya, Maria, Nikolaeva, Ekaterina

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  2. 2
    Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II)

    Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II) by Semyachkina, Alla Nikolaevna, Voskoboeva, Elena Yurievna, Nikolaeva, Ekaterina Alexandrovna, Zakharova, Ekaterina Yurievna

    Published in BMC medical genomics
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  3. 3
    Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia

    Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia by Voskoboeva, Elena, Semyachkina, Alla, Miklyaev, Ochir, Gamzatova, Amina, Mikhaylova, Svetlana, Vashakmadze, Nato, Baydakova, Galina, Omzar, Olga, Pichkur, Natalia, Zakharova, Ekaterina, Kutsev, Sergey

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  4. 4
    Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe

    Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe by Jurecka, Agnieszka, Zakharova, Ekaterina, Cimbalistiene, Loreta, Gusina, Nina, Malinova, Vera, Różdżyńska-Świątkowska, Agnieszka, Golda, Adam, Kulpanovich, Anna, Kaldenovna Abdilova, Gulnara, Voskoboeva, Elena, Tylki-Szymańska, Anna

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  5. 5
    Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature

    Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature by Jurecka, Agnieszka, Zakharova, Ekaterina, Malinova, Vera, Voskoboeva, Elena, Tylki-Szymańska, Anna

    Published in Clinical rheumatology
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  6. 6
    Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients

    Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients by Karsten, S, Voskoboeva, E, Tishkanina, S, Pettersson, U, Krasnopolskaja, X, Bondeson, M L

    Published in Human genetics
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  7. 7
    Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene

    Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene by Jurecka, Agnieszka, Zakharova, Ekaterina, Cimbalistiene, Loreta, Gusina, Nina, Kulpanovich, Anna, Golda, Adam, Opoka-Winiarska, Violetta, Piotrowska, Ewa, Voskoboeva, Elena, Tylki-Szymańska, Anna

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  8. 8
    Mucopolysaccharidosis type VI in R ussia, K azakhstan, and Central and Eastern E urope

    Mucopolysaccharidosis type VI in R ussia, K azakhstan, and Central and Eastern E urope by Jurecka, Agnieszka, Zakharova, Ekaterina, Cimbalistiene, Loreta, Gusina, Nina, Malinova, Vera, Różdżyńska‐Świątkowska, Agnieszka, Golda, Adam, Kulpanovich, Anna, Kaldenovna Abdilova, Gulnara, Voskoboeva, Elena, Tylki‐Szymańska, Anna

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  9. 9
    Molecular Genetics of Mucopolysaccharidosis Type I: Mutation Analysis among the Patients of the Former Soviet Union

    Molecular Genetics of Mucopolysaccharidosis Type I: Mutation Analysis among the Patients of the Former Soviet Union by Voskoboeva, Elena Y., Krasnopolskaya, Xenia D., Mirenburg, T.V., Weber, Birgit, Hopwood, John J.

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  10. 10
    Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions

    Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions by Karsten, Stanislav, Voskoboeva, Elena, Krasnopolskaja, Xcenia, Bondeson, Marie-Louise

    Published in Human mutation
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  11. 11
    Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

    Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) by Voskoboeva, E, Isbrandt, D, von Figura, K, Krasnopolskaya, X, Peters, C

    Published in Human genetics
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  12. 12
    Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (Mucopolysaccharidosis type II) patients

    Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (Mucopolysaccharidosis type II) patients by Karsten, Stanislav L., Voskoboeva, Elena, Carlberg, Britt-Marie, Kleijer, Wim J., Tönnesen, T, Pettersson, Ulf, Bondeson, Marie-Louise

    Published in Human mutation
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