Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Victoriia V, Zabnenkova"'
Autor:
Valeriia A, Kovalskaia, Victoriia V, Zabnenkova, Marina S, Petukhova, Zhanna G, Markova, Vyacheslav Yu, Tabakov, Oxana P, Ryzhkova
Publikováno v:
Genes. 13(12)
Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS, OMIM 616756) is a rare genetic disease caused by biallelic pathogenic variants in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::237a63b71854802d31b9884bece3b85e
https://pubmed.ncbi.nlm.nih.gov/36553453
https://pubmed.ncbi.nlm.nih.gov/36553453
Autor:
Valeriia A. Kovalskaia, Victoriia V. Zabnenkova, Marina S. Petukhova, Zhanna G. Markova, Vyacheslav Yu. Tabakov, Oxana P. Ryzhkova
Publikováno v:
Genes; Volume 13; Issue 12; Pages: 2186
Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS, OMIM 616756) is a rare genetic disease caused by biallelic pathogenic variants in the HACE1 gene. Originally, these mutations have been reported to be implicated in tumor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::142d985ff05ddba415cd4b33c0da325e
https://doi.org/10.3390/genes13122186
https://doi.org/10.3390/genes13122186
Autor:
Nikitin S; Research Center for Medical Genetics, Moscow, Russia., Melnik E; Research Center for Medical Genetics, Moscow, Russia., Sharkova I; Research Center for Medical Genetics, Moscow, Russia., Murtazina A; Research Center for Medical Genetics, Moscow, Russia., Shchagina O; Research Center for Medical Genetics, Moscow, Russia., Zabnenkova V; Research Center for Medical Genetics, Moscow, Russia., Tsargush V; Center of Aviation Medicine, Moscow, Russia., Dadali E; Research Center for Medical Genetics, Moscow, Russia., Kutsev S; Research Center for Medical Genetics, Moscow, Russia.
Publikováno v:
Frontiers in pediatrics [Front Pediatr] 2024 Nov 22; Vol. 12, pp. 1414465. Date of Electronic Publication: 2024 Nov 22 (Print Publication: 2024).