Search Results - "Molecular Genetics"

The effectiveness of Hain MTBDR in determining the resistance of M. Tuberculosis to anti-tuberculosis drugs by Olga Shevchenko, Maria Novohatska, Maryna Kochueva, Olha Pohorielova

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Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update by Deepti Narasimhaiah, Megha S Uppin, Prajnya Ranganath

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Treating TRAPS Syndrome with a Previously Undescribed TNF α Gene Receptor Mutation Successfully with Canakinumab by T. V. Sleptsova, E. I. Alexeeva, K. V. Savostyanov, A. A. Pushkov, T. M. Bzarova, K. B. Isaeva, R. V. Denisova

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MODERN DIAGNOSTIC METHODS OF TUBERCULOUS MENINGITIS AMONG CHILDREN'S POPULATION by B.P. SHARIPOV, D.M. YUSUPDZHANOVA, U.YU. SIRODJIDINOVA, D.M. IBRAGIMOVA

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PREDICTIVE ROLE OF CONNEXIN 40 IN THE PATHOGENESIS OF HEREDITARY SICK SINUS SYNDROME by S. Yu. Nikulina, A. A. Chernova, V. A. Shulman, T. S. Kukushkina, M. I. Voevoda, V. N. Maksimov

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MEROSIN-DEFICIENT CONGENITAL MUSCULAR DYSTROPHY (CMD1A): CLINICAL CASE OF CONGENITAL MUSCULAR DYSTROPHY INVOLVING CENTRAL NERVOUS SYSTEM by O. A. Klochkova, A. L. Kurenkov, A. M. Mamed'yarov

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The effectiveness of PCR-RT method for etiological diagnosis of atypical forms of whooping cough by A. Yu. Medkova, E. G. Syomin, L. N. Sinyashina, I. V. Babachenko, G. I. Karataev

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Cryopyrin-Associated Periodic Syndrome (CAPS) Caused by c.943A>G Variant of NLRP3 Gene: Clinical Case by Ivan A. Kriulin, E. I. Alexeeva, Tatyana M. Dvoryakovskaya, Bella I. Bursagova, Kirill V. Savostyanov, Natalya V. Zhurkova, Alexander A. Pushkov, Anatoli V. Anikin, Artem M. Nesterov

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Research of distribution pattern of allelic genes and genotypes of C/A polymorphism of COL1A1_1 collagen gene (RS1107946) in children with nasal obstruction of allergic genesis and... by Т. Ye. Shumna, O. M. Kamyshnyi, Т. P. Zinchenko

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Mucopolysaccharidosis Type I (Hurler - Scheie Syndrome): Case Report by Nato D. Vashakmadze, Olga I. Gumenuyk, Yuri V. Chernenkov, Ekaterina Yu. Zacharova, Igor A. Glushakov

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Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) inherited from her mosaic sSMC(15) mother and a literature review by Mei-Ling Sun, Hong-Guo Zhang, Xiang-Yin Liu, Fa-Gui Yue, Yu-Ting Jiang, Shi-Bo Li, Rui-Zhi Liu

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An atypical case of Noonan syndrome with mutation diagnosed by targeted exome sequencing by Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin

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Four Non-functional FUT1 Alleles Were Identified in Seven Chinese Individuals with Para-Bombay Phenotypes by Wei LIANG, Feng CAI, Liang YANG, Zhe ZHANG, Zhicheng WANG

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Genome wide association for substance dependence: convergent results from epidemiologic and research volunteer samples by Li Chuan-Yun, Walther Donna, Zhang Ping-Wu, Liu Qing-Rong, Drgon Tomas, Johnson Catherine, Anthony James C, Ding Yulan, Eaton William W, Uhl George R

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TP53 Gene Polymorphisms and Occupational Skin Cancer Risks for Workers of Glass Fiber Manufacture by Guzel F MUKHAMMADIYEVA, Denis O KARIMOV, Akhat B BAKIROV, Liliya K KARIMOVA

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Predicting the tolerability of inhalation therapy as a stage of a personalized approach in the treatment of children with cystic fibrosis by K.V. Skriabinа, S.I. Ilchenko, A.O. Fialkovska

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CLINICAL CASE OF FAMILIAL DUCHENNE MYODYSTROPHY by Марина Афанасьевна Соколовская, Екатерина Сергеевна Макарцева, Елена Николаевна Гаврилова

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Clinicopathological analysis of rosette-forming glioneuronal tumors by Jing Liu, Fan Lin, Yanhua Sun, Xia Liu

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Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient by Nataliya V. Zhurkova, Nato V. Vashakmadze, Andrey N. Surkov, Tatiana V. Turti, Kristina V. Bogdanova, Yuliya Yu. Kotalevskaya, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova

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USE OF SEQUENCING METHODS FOR SPECIES IDENTIFICATION EXEMPLIFIED BY PHYLOGENETIC RELATIONSHIPS WITHIN GENUS HEDYSARUM L. by D. R. Imachueva, F. K. Serebryanaya, E. M. Machs, V. V. Kotseruba

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