Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Oxana P. Ryzhkova"'
Autor:
Tatiana G. Markova, Natalia N. Alekseeva, Oxana P. Ryzhkova, Olga L. Shatokhina, Anna A. Orlova, Viktoriia V. Zabnenkova, Olga S. Groznova, Olesya V. Sagaydak, Svetlana S. Chibisova, Alexander V. Polyakov, George A. Tavartkiladze
Publikováno v:
Journal of International Advanced Otology, Vol 20, Iss 2, Pp 119-126 (2024)
BACKGROUND: Autosomal dominant hearing loss is represented by a large number of genetically determined forms. Over 50 genes associated with dominant nonsyndromic hearing impairments were described. Pathogenic variants in the CEACAM16 gene lead to the
Externí odkaz:
https://doaj.org/article/624002291141415b8d901c5708548814
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