Hasil Pencarian - Anatoly Tiulpakov

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  1. 1
    Familial Acromegaly and Bilateral Asynchronous Pheochromocytomas in a Female Patient With a MAX Mutation: A Case Report

    Familial Acromegaly and Bilateral Asynchronous Pheochromocytomas in a Female Patient With a MAX Mutation: A Case Report oleh Elizaveta Mamedova, Evgeny Vasilyev, Vasily Petrov, Svetlana Buryakina, Anatoly Tiulpakov, Anatoly Tiulpakov, Zhanna Belaya

    Diterbitkan 2021-05-01
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  2. 2
    Osteogenesis imperfecta type XIX due to a novel MBTPS2 mutation: A case report

    Osteogenesis imperfecta type XIX due to a novel MBTPS2 mutation: A case report oleh Tatiana Grebennikova, Anatoly Tiulpakov, Kristina Kulikova, Galina Melnichenko, Zhanna Belaya

    Diterbitkan 2020-10-01
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  3. 3
    Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant

    Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant oleh Ekaterina Sorkina, Polina Makarova, Liubov Bolotskaya, Irina Ulyanova, Tatyana Chernova, Anatoly Tiulpakov

    Diterbitkan 2020-05-01
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  4. 4
    Atypical progeroid syndrome (p.E262K LMNA mutation): a rare cause of short stature and osteoporosis

    Atypical progeroid syndrome (p.E262K LMNA mutation): a rare cause of short stature and osteoporosis oleh Marina Yukina, Nurana Nuralieva, Ekaterina Sorkina, Ekaterina Troshina, Anatoly Tiulpakov, Zhanna Belaya, Galina Melnichenko

    Diterbitkan 2021-04-01
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  5. 5
    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 oleh Nina Makretskaya, Natalia Kalinchenko, Inna Tebieva, Sofya Ionova, Rena Zinchenko, Andrey Marakhonov, Anatoly Tiulpakov

    Diterbitkan 2023-05-01
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  6. 6
    Serum circulating miRNA‐342‐3p as a potential diagnostic biomarker in parathyroid carcinomas: A pilot study

    Serum circulating miRNA‐342‐3p as a potential diagnostic biomarker in parathyroid carcinomas: A pilot study oleh Julia Krupinova, Natalya Mokrysheva, Vasiliy Petrov, Ekaterina Pigarova, Anna Eremkina, Ekaterina Dobreva, Alina Ajnetdinova, Galina Melnichenko, Anatoly Tiulpakov

    Diterbitkan 2021-10-01
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  7. 7
    Analysis of the informativeness of melatonin evaluation in polycystic ovary syndrome

    Analysis of the informativeness of melatonin evaluation in polycystic ovary syndrome oleh Elena Andreeva, Yulia Absatarova, Ekaterina Sheremetyeva, Dmitriy Derkatch, Tatiana Ponomareva, Anatoly Tiulpakov, Vitaliy Ioutsi, Alexander Ilyin, Kamoljon Murvatov

    Diterbitkan 2016-12-01
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  8. 8
    Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome

    Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome oleh Elizaveta Mamedova, Natalya Mokrysheva, Evgeny Vasilyev, Vasily Petrov, Ekaterina Pigarova, Sergey Kuznetsov, Nikolay Kuznetsov, Liudmila Rozhinskaya, Galina Melnichenko, Ivan Dedov, Anatoly Tiulpakov

    Diterbitkan 2017-10-01
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  9. 9
    High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.

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

    Diterbitkan 2018-01-01
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  10. 10
    Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1

    Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1 oleh Sommayya Aftab, Diliara Gubaeva, Jayne A L Houghton, Antonia Dastamani, Ellada Sotiridou, Clare Gilbert, Sarah E Flanagan, Anatoly Tiulpakov, Maria Melikyan, Pratik Shah

    Diterbitkan 2023-03-01
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  11. 11
    Insulinoma in childhood: a retrospective review of 22 patients from one referral centre

    Insulinoma in childhood: a retrospective review of 22 patients from one referral centre oleh Maria Melikyan, Maria Melikyan, Maria Melikyan, Diliara Gubaeva, Diliara Gubaeva, Anna Shadrina, Anna Bolmasova, Maria Kareva, Anatoly Tiulpakov, Anatoly Tiulpakov, Artem Efremenkov, Yuri Sokolov, Klaus Brusgaard, Klaus Brusgaard, Klaus Brusgaard, Henrik T. Christesen, Henrik T. Christesen, Henrik T. Christesen, Kirstine Andersen, Kirstine Andersen, Kirstine Andersen, Alexey Stepanov, Julia Averyanova, Sergey Makarov, Larisa Gurevich

    Diterbitkan 2023-04-01
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  12. 12
    Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review

    Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review oleh Shelagh M. Szabo, Ioannis C. Tomazos, Anna Petryk, Lauren C. Powell, Bonnie M. K. Donato, Yuri A. Zarate, Anatoly Tiulpakov, Gabriel Ángel Martos-Moreno

    Diterbitkan 2019-04-01
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  13. 13
    A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus

    A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus oleh Dimitrios T. Papadimitriou, Kleanthis Kleanthous, Emmanouil Manolakos, Anatoly Tiulpakov, Thomas Nikolopoulos, Alexandros Delides, Gerasimos Voros, Argyrios Dinopoulos, George Zoupanos, Anastasios Papadimitriou, Georgios Mastorakos, Fumihiko Urano

    Diterbitkan 2019-12-01
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  14. 14
    Diagnosis and treatment challenges of parathyroid carcinoma in a 27-year-old woman with multiple lung metastases

    Diagnosis and treatment challenges of parathyroid carcinoma in a 27-year-old woman with multiple lung metastases oleh Liudmila Rozhinskaya, Ekaterina Pigarova, Ekaterina Sabanova, Elizaveta Mamedova, Iya Voronkova, Julia Krupinova, Larisa Dzeranova, Anatoly Tiulpakov, Vera Gorbunova, Nadezhda Orel, Artur Zalian, Galina Melnichenko, Ivan Dedov

    Diterbitkan 2017-03-01
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