Search Results - Makretskaya, Nina

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  1. 1
    High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism

    High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism by Makretskaya, Nina, Bezlepkina, Olga, Kolodkina, Anna, Kiyaev, Alexey, Vasilyev, Evgeny V, Petrov, Vasily, Kalinenkova, Svetlana, Malievsky, Oleg, Dedov, Ivan I, Tiulpakov, Anatoly

    Published in PloS one
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  2. 2
    High carrier frequency of a nonsense p.Trp230 variant in HSD3B2 gene in Ossetians

    High carrier frequency of a nonsense p.Trp230 variant in HSD3B2 gene in Ossetians by Makretskaya, Nina, Kalinchenko, Natalia, Tebieva, Inna, Ionova, Sofya, Zinchenko, Rena, Marakhonov, Andrey, Tiulpakov, Anatoly

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  3. 3
    High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy

    High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy by Zubkova, Natalia, Burumkulova, Fatima, Plechanova, Margarita, Petrukhin, Vasily, Petrov, Vasily, Vasilyev, Evgeny, Panov, Anton, Sorkina, Ekaterina, Ulyatovskaya, Victoria, Makretskaya, Nina, Tiulpakov, Anatoly

    Published in Acta diabetologica
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  4. 4
    Clinical and laboratory characteristics of arginine vasopressin resistance, caused by a new homozygous mutation p.R113C in AQP2

    Clinical and laboratory characteristics of arginine vasopressin resistance, caused by a new homozygous mutation p.R113C in AQP2 by Makretskaya, N. A., Nanzanova, U. S., Hamaganova, I. R., Eremina, E. R., Tiulpakov, A. N.

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  5. 5
    Out-of-frame translation rescues a loss-of-function variant in a novel TBCE phenotype

    Out-of-frame translation rescues a loss-of-function variant in a novel TBCE phenotype by Sparber, Peter, Ulas, Evgeniia, Filatova, Alexandra, Tatarskiy, Eugene, Perelman, Grigory, Makretskaya, Nina, Nagaeva, Elena, Kareva, Maria, Frolova, Elena, Kalinchenko, Natalia, Tvorogova, Anna V, Golyshev, Sergey, Burakov, Anton, Tabakov, Vyacheslav, Lozier, Ekaterina, Konovalov, Fedor, Voinova, Victoria, Tiulpakov, Anatoliy, Skoblov, Mikhail

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  6. 6
    Синдром Кальмана у монозиготных близнецов как изолированное проявление дефекта гена SOX10

    Синдром Кальмана у монозиготных близнецов как изолированное проявление дефекта гена SOX10 by Фролова, Е. Б., Петров, В. М., Васильев, Е. В., Макрецкая, Н. A., Пилипенко, О. В., Тюльпаков, А. Н.

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