Zobrazeno 1 - 3
of 3
pro vyhledávání: '"В. Анцупова"'
Publikováno v:
Неонатологія, хірургія та перинатальна медицина, Vol 14, Iss 2(52) (2024)
The widespread introduction of molecular genetic research methods into health care practice has made it possible to diagnose rare microdeletion syndromes in patients with multiple congenital malformations.. Aim of the study is to present the results
Externí odkaz:
https://doaj.org/article/51267e3f775d4036a1fe775ad0618fd6
Publikováno v:
Неонатологія, хірургія та перинатальна медицина, Vol 13, Iss 3(49) (2023)
Thanatophoric dysplasia, TD (OMIM: 187600, 87601) belongs to the group of FGFR3 chondrodysplasias and is divided into types I and II. The incidence of TD is approximately 1:20,000-50,000 newborns. TD is usually caused by pathogenic variants in the FG
Externí odkaz:
https://doaj.org/article/833b0100204c468ba1473abc7ad420e3
Publikováno v:
Неонатологія, хірургія та перинатальна медицина, Vol 12, Iss 1(43) (2022)
Osteogenesis imperfecta (OI) is a disease that is characterized by hereditary connective tissue dysplasia and is clinically manifested as excessive bone fragility and limb deformity. The overall incidence of OI is 1:10,000-20,000 live births. The mai
Externí odkaz:
https://doaj.org/article/ee4e67fade6844bd8a93b83b00f811d9