Hasil Pencarian - Anatoly N. Tiulpakov

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  1. 1
    Hypophosphatemic rickets: pathogenesis, diagnosis and treatment

    Hypophosphatemic rickets: pathogenesis, diagnosis and treatment oleh Kristina S. Kulikova, Anatoly N. Tiulpakov

    Diterbitkan 2018-07-01
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  2. 2
    Inherited and acquired lipodystrophies: molecular-genetic and autoimmune mechanisms

    Inherited and acquired lipodystrophies: molecular-genetic and autoimmune mechanisms oleh Ekaterina L. Sorkina, Anatoly N. Tiulpakov

    Diterbitkan 2018-04-01
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  3. 3
    Severe Wolcott-Rallison syndrome due to a nonsense mutation in the first exon EIF2AK3

    Severe Wolcott-Rallison syndrome due to a nonsense mutation in the first exon EIF2AK3 oleh Diliara N. Gubaeva, Dmitry N. Laptev, Anatoly N. Tiulpakov, Lidia M. Petrova

    Diterbitkan 2018-03-01
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  4. 4
    Osteogenesis imperfecta as a cause of death

    Osteogenesis imperfecta as a cause of death oleh Anastasia A. Malygina, Tatiana A. Grebennikova, Anatoly N. Tiulpakov, Zhanna E. Belaya

    Diterbitkan 2018-04-01
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  5. 5
    Metabolic changes in patients with familial pituitary adenomas associated with mutations in the AIP gene

    Metabolic changes in patients with familial pituitary adenomas associated with mutations in the AIP gene oleh Tatiana S. Tarasova, Ekaterina A. Pigarova, Larisa K. Dzeranova, Anatoly N. Tiulpakov, Ivan I. Dedov

    Diterbitkan 2017-03-01
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  6. 6
    Late consequences of classic congenital adrenal hyperplasia and its long-term poor control in men (case report and literature review)

    Late consequences of classic congenital adrenal hyperplasia and its long-term poor control in men (case report and literature review) oleh Boris M. Shifman, Larisa K. Dzeranova, Ekaterina A. Pigarova, Anatoly N. Tiulpakov, Natalia S. Fedorova

    Diterbitkan 2019-12-01
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  7. 7
    Rare genetic diseases of the bone tissue: the case of a family with osteogenesis imperfecta and X-linked hypophosphataemia

    Rare genetic diseases of the bone tissue: the case of a family with osteogenesis imperfecta and X-linked hypophosphataemia oleh Irina Yu. Popova, Tatiana A. Grebennikova, Anatoly N. Tiulpakov, Kristina S. Kulikova, Liudmila Y. Rozhinskaya, Zhanna E. Belaya

    Diterbitkan 2018-04-01
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  8. 8
    First description of a type v osteogenesis imperfecta clinical case with severe skeletal deformities caused by a mutation p.119C> T in IFITM5 gene in Russia

    First description of a type v osteogenesis imperfecta clinical case with severe skeletal deformities caused by a mutation p.119C> T in IFITM5 gene in Russia oleh Tatiana A. Grebennikova, Alina O. Gavrilova, Anatoly N. Tiulpakov, Natalya V. Tarbaeva, Zhanna E. Belaya, Galina A. Melnichenko

    Diterbitkan 2020-02-01
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  9. 9
    Clinical application experience of asfotase alfa for a young patient with childhood hypophosphatasia

    Clinical application experience of asfotase alfa for a young patient with childhood hypophosphatasia oleh Nataliya Y. Kalinchenko, Olga O. Golounina, Tatiana A. Grebennikova, Galina A. Melnichenko, Anatoly N. Tiulpakov, Zhanna E. Belaya

    Diterbitkan 2019-11-01
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  10. 10
    Genetic parameters of wound healing in patients with neuropatic diabetic foot ulcers

    Genetic parameters of wound healing in patients with neuropatic diabetic foot ulcers oleh Ekaterina L. Zaitseva, Alla Y. Tokmakova, Iya A. Voronkova, Vasily M. Petrov, Anatoly N. Tiulpakov, Marina V. Shestakova

    Diterbitkan 2017-12-01
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  11. 11
    Generation of an induced pluripotent stem cell line HPCASRi002-A from a patient with neonatal severe primary hyperparathyroidism caused by a compound heterozygous mutation in the CASR gene

    Generation of an induced pluripotent stem cell line HPCASRi002-A from a patient with neonatal severe primary hyperparathyroidism caused by a compound heterozygous mutation in the C... oleh Alexandra V. Panova, Kristina S. Kulikova, Natalia V. Klementieva, Ivan D. Krylov, Irina O. Snezhko, Anatoly N. Tiulpakov, Sergey L. Kiselev

    Diterbitkan 2021-07-01
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  12. 12
    Monogenic diabetes associated with PAX4 gene mutations (MODY9): first description in Russia

    Monogenic diabetes associated with PAX4 gene mutations (MODY9): first description in Russia oleh Natalya A. Zubkova, Olesya A. Gioeva, Vasiliy M. Petrov, Evgeny V. Vasiliev, Alexei V. Timofeev, Anna V. Abrukova, Anatoly N. Tiulpakov

    Diterbitkan 2017-12-01
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  13. 13
    Generation of an induced pluripotent stem cell line MNDINSi001-A from a patient with neonatal diabetes caused by a heterozygous INS mutation

    Generation of an induced pluripotent stem cell line MNDINSi001-A from a patient with neonatal diabetes caused by a heterozygous INS mutation oleh Alexandra V. Panova, Natalia V. Klementieva, Anna V. Sycheva, Daria V. Goliusova, Nikolay V. Khokhlov, Natalia A. Zubkova, Anatoly N. Tiulpakov, Sergey L. Kiselev

    Diterbitkan 2020-08-01
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  14. 14
    A synonymous variant in GCK gene as a cause of gestational diabetes mellitus

    A synonymous variant in GCK gene as a cause of gestational diabetes mellitus oleh Natalia A. Zubkova, Petr M. Rubtsov, Fatima F. Burumkulova, Liudmila I. Ibragimova, Nina A. Makretskaya, Evgeny V. Vasilyev, Vasily M. Petrov, Anatoly N. Tiulpakov

    Diterbitkan 2019-06-01
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  15. 15
    Erratum: a synonymous variant in GCK gene as a cause of gestational diabetes mellitus (diabetes mellitus. 2019;22(2). Doi: 10.14341/dm9938)

    Erratum: a synonymous variant in GCK gene as a cause of gestational diabetes mellitus (diabetes mellitus. 2019;22(2). Doi: 10.14341/dm9938) oleh Natalia A. Zubkova, Petr M. Rubtsov, Fatima F. Burumkulova, Liudmila I. Ibragimova, Nina A. Makretskaya, Evgeny V. Vasilyev, Vasily M. Petrov, Anatoly N. Tiulpakov

    Diterbitkan 2019-10-01
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  16. 16
    Birth weight and length in offsprings of mothers with gestational diabetes mellitus due to mutations in GCK gene

    Birth weight and length in offsprings of mothers with gestational diabetes mellitus due to mutations in GCK gene oleh Natalia A. Zubkova, Fatima F. Burumkulova, Victoria I. Ulyatovskaya, Vasily A. Petrukhin, Margarita A. Plechanova, Anton E. Panov, Tatiana S. Budykina, Nina A. Makretskaya, Anatoly N. Tiulpakov

    Diterbitkan 2018-05-01
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  17. 17
    Aberrant Splicing of <i>INS</i> Impairs Beta-Cell Differentiation and Proliferation by ER Stress in the Isogenic iPSC Model of Neonatal Diabetes

    Aberrant Splicing of <i>INS</i> Impairs Beta-Cell Differentiation and Proliferation by ER Stress in the Isogenic iPSC Model of Neonatal Diabetes oleh Alexandra V. Panova, Natalia V. Klementieva, Anna V. Sycheva, Elena V. Korobko, Anastasia O. Sosnovtseva, Tatiana S. Krasnova, Maria R. Karpova, Petr M. Rubtsov, Yulia V. Tikhonovich, Anatoly N. Tiulpakov, Sergey L. Kiselev

    Diterbitkan 2022-08-01
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  18. 18
    Differential diagnostic utilities of combined testing for islet cell antibody, glutamic acid decarboxylase antibody, and tyrosine phosphatase antibody

    Differential diagnostic utilities of combined testing for islet cell antibody, glutamic acid decarboxylase antibody, and tyrosine phosphatase antibody oleh Alexei V. Timofeev, Igor E. Koltunov, Elena E. Petriaikina, Irina G. Rybkina, Lubov N. Samsonova, Anatoly N. Tiulpakov, Natalia A. Zubkova, Irina G. Kolomina, Evgenia A. Evsjukova, Sergey S. Bukin, Alexey C. Khrushchev

    Diterbitkan 2018-05-01
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