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BMC Medical Geneticsжурнал

Статьи, опубликованные в журнале

• • 2020 Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report
  • Sparber Peter, Sharova Margarita, Filatova Alexandra, Shchagina Olga, Ivanova Evgeniya, Dadali Elena, Skoblov Mikhail
  • в журнале BMC Medical Genetics, издательство BioMed Central (London), том 21, № S1 DOI
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  • 2019 Novel potential causative genes in carotid paragangliomas
  • Snezhkina Anastasiya V., Lukyanova Elena N., Zaretsky Andrew R., Kalinin Dmitry V., Pokrovsky Anatoly V., Golovyuk Alexander L., Krasnov George S., Fedorova Maria S., Pudova Elena A., Kharitonov Sergey L., Melnikova Nataliya V., Alekseev Boris Y., Kiseleva Marina V., Kaprin Andrey D., Dmitriev Alexey A., Kudryavtseva Anna V.
  • в журнале BMC Medical Genetics, издательство BioMed Central (London), том 20, № S1, с. 1-9 DOI
• • 2019 Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients
  • Degtyareva Anna V., Proshlyakova Tatiana Y., Gautier Marina S., Degtyarev Dmitry N., Kamenets Elena A., Baydakova Galina V., Rebrikov Denis V., Zakharova Ekaterina Y.
  • в журнале BMC Medical Genetics, издательство BioMed Central (London), том 20, № 1 DOI
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  • 2019 The CIMP-high phenotype is associated with energy metabolism alterations in colon adenocarcinoma
  • Fedorova Maria S., Krasnov George S., Lukyanova Elena N., Zaretsky Andrew R., Dmitriev Alexey A., Melnikova Nataliya V., Moskalev Alexey A., Kharitonov Sergey L., Pudova Elena A., Guvatova Zulfiya G., Kobelyatskaya Anastasiya A., Ishina Irina A., Slavnova Elena N., Lipatova Anastasia V., Chernichenko Maria A., Sidorov Dmitry V., Popov Anatoly Y., Kiseleva Marina V., Kaprin Andrey D., Snezhkina Anastasiya V., Kudryavtseva Anna V.
  • в журнале BMC Medical Genetics, издательство BioMed Central (London), том 20, № S1, с. 15-27
• • 2018 Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders
  • Marakhonov AV, Konovalov FA, Makaov AK, Vasilyeva TA, Kadyshev Galkina VA, Dadali EL, Kutsev SI, Zinchenko RA
  • в журнале BMC Medical Genetics, издательство BioMed Central (London), том 11, № 1, с. 91-95