Current Approaches to the Treatment of Hunter Syndrome by Ekaterina Yu. Zakharova, Elena Yu. Voskoboeva, Alla N. Semyachkina, Nato D. Vashakmadze, Amina I. Gamzatova, Svetlana V. Mikhailova, Sergey I. Kutsev

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Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders by 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

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Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report by 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

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Exome, transcriptome and miRNA analysis don't reveal any molecular markers of TKI efficacy in primary CML patients by Alexander V. Lavrov, Ekaterina Yu. Chelysheva, Elmira P. Adilgereeva, Oleg A. Shukhov, Svetlana A. Smirnikhina, Konstantin S. Kochergin-Nikitsky, Valentina D. Yakushina, Grigory A. Tsaur, Sergey V. Mordanov, Anna G. Turkina, Sergey I. Kutsev

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A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region by 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

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Vitamin D Status in Russian Children and Adolescents: Contribution of Genetic and Exogenous Factors by Elena I. Kondratyeva, Irina N. Zakharova, Natalya A. Ilenkova, Leonid Ya. Klimov, Nika V. Petrova, Aisa E. Zodbinova, Elena K. Zhekaite, Vladimir V. Chikunov, Svetlana V. Dolbnya, Anna Yu. Voronkova, Victoria D. Sherman, Elena V. Loshkova, Yuliya L. Melyanovskaya, Roman M. Budzinskiy, Victoria A. Kuryaninova, Sergey I. Kutsev

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Modern Approaches to the Management of Children with Atypical Hemolytic Uremic Syndrome by Khadizha M. Emirova, Tatiana Yu. Abaseeva, Alexander A. Baranov, Nato D. Vashakmadze, Elena A. Vishneva, Galina A. Generalova, Ekaterina Yu. Zakharova, Tatiana A. Kaluzhnaya, Sergey I. Kutsev, Leyla S. Namazova-Baranova, Tamara P. Makarova, Tea V. Margieva, Sofya A. Mstislavskaya, Aleksandr L. Muzurov, Tatiana E. Pankratenko, Marina M. Shilova, Marina V. Fedoseenko

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Homocystinuria in Children by Alexander A. Baranov, Leyla S. Namazova-Baranova, Tatyana E. Borovik, Tatyana V. Bushueva, Oksana V. Globa, Natalya V. Zhurkova, Elena A. Vishneva, Ekaterina Yu. Zakharova, Natalya G. Zvonkova, Ljudmila M. Kuzenkova, Sergey I. Kutsev, Svetlana V. Mikhaylova, Ekaterina A. Nikolaeva, Petr V. Novikov, Alexandr A. Pushkov, Kirill V. Savostyanov, Elena Yu. Voskoboeva, Liliia R. Selimzianova, Alla N. Semyachkina

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Modern Approaches to the Management of Children with Mucopolysaccharidosis Type I by Galina V. Baidakova, Alexander A. Baranov, Irina V. Vakhlova, Nato D. Vashakmadze, Elena Yu. Voskoboeva, Ekaterina Yu. Zakharova, Ludmila M. Kuzenkova, Sergey I. Kutsev, Valentina I. Larionova, Tina V. Lobzhanidze, Ludmila K. Mikhailova, Svetlana V. Mikhailova, Sergey V. Moiseev, Leyla S. Namazova-Baranova, Sergey S. Nikitin, Natalya L. Pechatnikova, Olga A. Polyakova, Alla N. Semyachkina, Olga V. Udalova

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Current Approaches in Management of Patients with Hypophosphatasia by Alexander A. Baranov, Leyla S. Namazova-Baranova, Sergey I. Kutsev, Tea V. Margieva, Nato D. Vashakmadze, Elena A. Vishneva, Lilia R. Selimzyanova, Elena Yu. Voskoboeva, Ekaterina Yu. Zakharova, Ludmila M. Kuzenkova, Tina V. Lobzhanidze, Lyudmila K. Mikhaylova, Olga A. Polyakova, Svetlana V. Mikhaylova, Sergei V. Moiseev, Tatiana V. Podkletnova, Alla N. Semechkina, Olga V. Udalova, Alisa V. Vitebskaya, Larisa P. Kisel'nikova, Mikhail M. Kostik

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Modern Approaches to the Management of Children with Hypophosphatasia by Aleksander A. Baranov, Tatiana T. Batysheva, Olga V. Bykova, Nato D. Vashakmadze, Elena V. Vislobokova, Alisa V. Vitebskaya, Elena A. Vishneva, Victoria Yu. Voynova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Larisa P. Kisel'nikova, Mikhail M. Kostik, Sergey I. Kutsev, Tea V. Margieva, Leyla S. Namazova-Baranova, Svetlana V. Mikhaylova, Sergey V. Moiseev, Tatyana S. Nagornaya, Liliia R. Selimzyanova, Alla N. Semyachkina, Olga Ya. Smirnova, Marina V. Fedoseenko, Svetlana V. Pishchal'nikova

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Duchenne Muscular Dystrophy: Modern Approaches in Patient Management by Inga V. Anisimova, Svetlana B. Artemyeva, Elena D. Belousova, Nato D. Vashakmadze, Dmitriy V. Vlodavets, Tatiana A. Gremyakova, Olga S. Groznova, Valentina I. Guzeva, Elena V. Gusakova, Lyudmila M. Kuzenkova, Alexey L. Kurenkov, Sergey I. Kutsev, Svetlana V. Mikhaylova, Lyudmila P. Nazarenko, Sergey S. Nikitin, Artem Yu. Novikov, Tatiana V. Podkletnova, Elena V. Polevichenko, Alexander V. Polyakov, Gennady G. Prokopyev, Dmitry I. Rudenko, Svetlana A. Repina, Evgeniia V. Romanenko, Sergey O. Ryabykh, Gul'zhan E. Sakbaeva, Elena Yu. Sapego, Liliia R. Selimzyanova, Andrey A. Stepanov, Dmitry M. Subbotin, Vasiliy M. Suslov, Elena V. Tozliyan, Dmirty A. Feklistov, Nadezhda I. Shakhovskaya, Ekaterina V. Shreder

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Modern Approaches in Management of Children with Cystic fibrosis by Alexander A. Baranov, Leyla S. Namazova-Baranova, Sergey I. Kutsev, Sergey N. Avdeev, Elena V. Polevichenko, Andrey S. Belevskiy, Elena I. Kondratyeva, Olga I. Simonova, Nataliya Yu. Kashirskaya, Victoria D. Sherman, Anna Yu. Voronkova, Evgeniya L. Amelina, Tatyana E. Gembitskaya, Stanislav A. Krasovskiy, Alexey G. Chermenskiy, Tatyana A. Stepanenko, Liliia R. Selimzyanova, Elena A. Vishneva, Yulia V. Gorinova, Elena A. Roslavtseva, Irina K. Asherova, Natalya A. Ilyenkova, Sergey K. Zyryanov, Niso D. Odinayeva, Tatyana Yu. Maksimycheva, Alexander V. Orlov, Sergey Yu. Semykin, Marina Yu. Chernukha, Igor A. Shaginyan, Lusine R. Avetisyan, Galina L. Shumkova, Natalya A. Krylova, Ivan A. Dronov, Maria N. Kostyleva, Ludmila A. Zhelenina, Nikolay N. Klimko, Yuliya V. Borzova, Natalya V. Vasilyeva, Tatyana S. Bogomolova, Anna A. Speranskaya, Irina A. Baranova, Evgeny G. Furman, Vera V. Shadrina, Nikolay F. Shchapov, Nika V. Petrova, Ivan V. Pashkov, Olga M. Tsirulnikova, Dmitriy P. Polyakov, Valeriy M. Svistushkin, Eduard V. Sin'kov, Vyacheslav B. Chernykh, Svetlana A. Repina, Dmitriy A. Blagovidov, Mikhail P. Kostinov, Olga V. Kondratenko, Artem V. Lyamin, Svetlana V. Polikarpova, Alexander V. Polyakov, Tagui A. Adyan, Dmitry V. Goldshtein, Tatiana B. Bukharova, Anna S. Efremova, Elena S. Ovsyankina, Ludmila V. Panova, Irina V. Cherkashina

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