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BMC Medical Genetics

Ausgabe Sonderheft 1/2020

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

Inhalt (7 Artikel)

Open Access Introduction

Medical genetics studies at the SBB-2019 and MGNGS-2019 conferences

Ancha V. Baranova, Elena Yu. Leberfarb, Georgy S. Lebedev, Yuriy L. Orlov

Open Access Research

Genetic polymorphisms of PIP5K2A and course of schizophrenia

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

Open Access Research

Understanding the molecular association between hyperkalemia and lung squamous cell carcinomas

Xianping Meng, Hongyan Lu, Xia Jiang, Bin Huang, Song Wu, Guiping Yu, Hongbao Cao

Open Access Research

Deep vein thrombosis inhibitor may play a therapeutic role in post-stroke patients

Xixi Xiang, Di Yuan, Peiyan Kong, Ting Chen, Han Yao, Shijia Lin, Xi Zhang, Hongbao Cao

Open Access Research

Unannotated single nucleotide polymorphisms in the TATA box of erythropoiesis genes show in vitro positive involvements in cognitive and mental disorders

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

Open Access Case Report

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

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

Open Access Case Report

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

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