Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Irina Zh. Zhalsanova"'
Publikováno v:
RUDN Journal of Medicine, Vol 28, Iss 2, Pp 282-292 (2024)
Relevance. The problem of diagnosing hereditary neuromuscular diseases is one of the most difficult in the medical specialists’ practice. Molecular genetic diagnostics is one of the fundamental aspects in the classification and subsequent approache
Externí odkaz:
https://doaj.org/article/53385cd5a82b4c0eb10a91d10643f1a2
Case Report: A Novel Homozygous Variant of the SERPINF1 Gene in Rare Osteogenesis Imperfecta Type VI
Autor:
Irina Zh. Zhalsanova, Anna Evgenievna Postrigan, Nail Raushanovich Valiakhmetov, Nikita Aleksandrovich Kolesnikov, Daria Ivanovna Zhigalina, Aleksei Andreevich Zarubin, Valeria Viktorovna Petrova, Larisa Ivanovna Minaycheva, Gulnara Narimanovna Seitova, Nikolay Alekseevich Skryabin, Vadim Anatolevich Stepanov
Publikováno v:
International Journal of Molecular Sciences. 24:6672
Osteogenesis imperfecta (OI) is a group of connective tissue disorders with different types of inheritance. OI is characterized by bone fragility and deformities, frequent fractures, low bone-mineral density, and impaired bone micro-architectonics. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d18ad13be43e9c2b1b4dd3cf548a6a5
https://doi.org/10.3390/ijms24076672
https://doi.org/10.3390/ijms24076672
Autor:
Irina Zh. Zhalsanova, Ekatherina G. Ravzhaeva, Anna E. Postrigan, Gulnara N. Seitova, Daria I. Zhigalina, Vasilisa Yu. Udalova, Maryana M. Danina, Ilya V. Kanivets, Nikolay A. Skryabin
Publikováno v:
International Journal of Molecular Sciences. 23:10606
Rafiq syndrome (RAFQS) is a congenital disorder of glycosylation (CDG) that is caused by mutations in the MAN1B1 gene and characterized by impaired protein and lipid glycosylation. RAFQS is characterized by a delay in intellectual and motor developme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5b8d9bfe3a49b913fe2b512eea92d1d2
https://doi.org/10.3390/ijms231810606
https://doi.org/10.3390/ijms231810606