Zobrazeno 1 - 7
of 7
pro vyhledávání: '"S. G. Kalinenkova"'
Publikováno v:
Alʹmanah Kliničeskoj Mediciny, Vol 48, Iss 4, Pp 271-279 (2020)
The 5p inverted duplication deletion syndrome, also known as inv dup del 5p, is a rare genetic disorder with a prevalence of below 1:1 000 000, whose underlying abnormality lies in a segmental trisomy and simultaneous segmental monosomy of the short
Externí odkaz:
https://doaj.org/article/b039bc28506f49d7827c388640776e57
Publikováno v:
Alʹmanah Kliničeskoj Mediciny, Vol 48, Iss 4, Pp 271-279 (2020)
The 5p inverted duplication deletion syndrome, also known as inv dup del 5p, is a rare genetic disorder with a prevalence of below 1:1 000 000, whose underlying abnormality lies in a segmental trisomy and simultaneous segmental monosomy of the short
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ee4bcfd2781a7e1bd47213d981462bb
https://doi.org/10.18786/2072-0505-2020-48-025
https://doi.org/10.18786/2072-0505-2020-48-025
Autor:
Yu V, Vydrych, N S, Demikova, Yu N, Filyushkin, S G, Kalinenkova, M A, Podolnaya, A S, Lapina, A E, Mashkov, A Yu, Asanov
Publikováno v:
Eksperimental'naia i klinicheskaia gastroenterologiia = Experimentalclinical gastroenterology. (5)
The review presents an analysis of current data on the epidemiology, etiology, clinical and genetic characteristics of congenital anorectal malformations (AM). According to international registers of congenital malformations prevalence of the AM vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2a16e436d90c389aad6902d5da443a62
https://pubmed.ncbi.nlm.nih.gov/28614646
https://pubmed.ncbi.nlm.nih.gov/28614646
Publikováno v:
Problems of Endocrinology. 59:18-22
The non-classical form of 21-hydroxylase deficiency (NC21OH) is one of the most common monogenic diseases inherited in the autosomal-recessive pattern. The incidence of this condition in the Russian population, unlike that of its classical variant, r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ddfc8f858e5f12a89fcc6bdf01ffc04e
https://doi.org/10.14341/probl201359418-22
https://doi.org/10.14341/probl201359418-22
Autor:
V. G. Pomelova, S. G. Kalinenkova
Publikováno v:
Problems of Endocrinology. 47:15-19
A total of 211418 (87.3%) neonates bom in the Moscow Region in 1991, 1995-1998 were examined for infantile hypothyroidism (111) using Delfia Finnish kits within the framework of the Federal program of mass-screening for 1H. Incidence of transitory hy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::58471ac5db87fd7cb14d81393640603f
https://doi.org/10.14341/probl11729
https://doi.org/10.14341/probl11729
Autor:
V. G. Pomelova, S. G. Kalinenkova
Publikováno v:
Problems of Endocrinology. 46:18-26
A 4-year neonatal screening for infantile hypothyroidism (IH) performed in the Moscow Region in 1995—1998 under relevant Federal program has detected 29 neonates with IH. The cases distribution in the Region was sporadic with the mean frequency of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf319e000331a31b4bdd2e0ffa5d969c
https://doi.org/10.14341/probl11879
https://doi.org/10.14341/probl11879
Publikováno v:
Klinicheskaia laboratornaia diagnostika. (12)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a8aae26f2e5363b8206bdbe88853ab5d
https://pubmed.ncbi.nlm.nih.gov/12587546
https://pubmed.ncbi.nlm.nih.gov/12587546