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Volume 21 Supplement 1

Selected Topics in “Systems Biology and Bioinformatics” - 2019: medical genetics


Publication of this supplement has not been supported by sponsorship. Information about the source of funding for publication charges can be found in the individual articles. The articles have undergone the journal's standard peer review process for supplements. The Supplement Editors were not involved in the review of any articles they co-authored. No other competing interests were declared.

Novosibirsk, Russia24-28 June 2019

Conference website

Edited by Yuriy Orlov, Ancha Baranova and Tatiana Tatarinova.

  1. Schizophrenia is a severe highly heritable mental disorder. The clinical heterogeneity of schizophrenia is expressed in the difference in the leading symptoms and course of the disease. Identifying the genetic...

    Authors: Evgeniya G. Poltavskaya, Olga Yu. Fedorenko, Natalya M. Vyalova, Elena G. Kornetova, Nikolay A. Bokhan, Anton J. M. Loonen and Svetlana A. Ivanova

    Citation: BMC Medical Genetics 2020 21(Suppl 1):171

    Content type: Research

    Published on:

  2. Hemoglobin is a tetramer consisting of two α-chains and two β-chains of globin. Hereditary aberrations in the synthesis of one of the globin chains are at the root of thalassemia, one of the most prevalent mon...

    Authors: Mikhail Ponomarenko, Ekaterina Sharypova, Irina Drachkova, Irina Chadaeva, Olga Arkova, Olga Podkolodnaya, Petr Ponomarenko, Nikolay Kolchanov and Ludmila Savinkova

    Citation: BMC Medical Genetics 2020 21(Suppl 1):165

    Content type: Research

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  3. Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation after evoked or voluntary contraction. Myotonia congenita can be inherited in a dominant (Thomsen dise...

    Authors: Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali and Mikhail Skoblov

    Citation: BMC Medical Genetics 2020 21(Suppl 1):197

    Content type: Case Report

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  4. Hereditary ophthalmic pathology is a genetically heterogeneous group of diseases that occur either as an isolated eye disorder or as a symptom of hereditary syndromes (chromosomal or monogenic). Thus, a diagno...

    Authors: 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 and Rena A. Zinchenko

    Citation: BMC Medical Genetics 2020 21(Suppl 1):156

    Content type: Case Report

    Published on: