Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Varvara Galkina"'
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Pathogenic variants in the SCN1A gene are associated with a spectrum of epileptic disorders ranging in severity from familial febrile seizures to Dravet syndrome. Large proportions of reported pathogenic variants in SCN1A are annotated as missense va
Externí odkaz:
https://doaj.org/article/df0dac34c2984be0a0c26e318400ea2b
Autor:
Nika Petrova, Natalia Balinova, Andrey Marakhonov, Tatyana Vasilyeva, Nataliya Kashirskaya, Varvara Galkina, Evgeniy Ginter, Sergey Kutsev, Rena Zinchenko
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Cystic fibrosis (CF) is a common monogenic disease caused by pathogenic variants in the CFTR gene. The distribution and frequency of CFTR variants vary in different countries and ethnic groups. The spectrum of pathogenic variants of the CFTR gene was
Externí odkaz:
https://doaj.org/article/796eba6632824af0b85d51231d6a7c3a
Autor:
Olga Levchenko, Elena Dadali, Ludmila Bessonova, Nina Demina, Galina Rudenskaya, Galina Matyushchenko, Tatiana Markova, Inga Anisimova, Natalia Semenova, Olga Shchagina, Oxana Ryzhkova, Rena Zinchenko, Varvara Galkina, Victoria Voinova, Sabina Nagieva, Alexander Lavrov
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 14; Pages: 7764
Intellectual development disorder (IDD) is characterized by a general deficit in intellectual and adaptive functioning. In recent years, there has been a growing interest in studying the genetic structure of IDD. Of particular difficulty are patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce0ef3e18b8eabc602c4d5c2f4655bc3
Autor:
Elizabeth Timkovskaya, Amin Makaov, Lyudmila Mikhailova, Tatyana Vasilyeva, А. Marakhonov, Varvara Galkina, Sergey Kutsev, Rena Zinchenko
Publikováno v:
Medical news of the North Caucasus. 11
Metatropic dysplasia (MTD; OMIM #156530) is a rare spondyloepimetaphyseal dysplasia with autosomal dominant inheritance. Here we present the results of the clinical, radiological and molecular genetic diagnosis of MTD in a circassian girl with novel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b57cc7974e4f958a94c9c6f99c7f81db
https://doi.org/10.14300/mnnc.2016.11029
https://doi.org/10.14300/mnnc.2016.11029