Zobrazeno 1 - 6 of 6 pro vyhledávání: '"L A, Kodunov"'
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[Genetic counseling and ultrasonographic prenatal diagnosis of skeletal dysplasias in monogenic and chromosomal syndromes]
Autor: N P, Veropotvelian, P N, Veropotvelian, N M, Tomashevskaia, L V, Klipova, M K, Nikitenko, I E, Khan', L A, Kodunov
Publikováno v: Akusherstvo i ginekologiia. (11)
The paper reports sonographic prenatal diagnosis of monogenic and chromosomal syndromes (congenital malformations) which are associated with skeletal abnormalities: autosomal recessive syndromes (shortribs--polydactyly, type II; dyssegmental dwarfism
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d8476e5913cdc41452605048ce503c21
https://pubmed.ncbi.nlm.nih.gov/2077906
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4
[Trisomy for distal segments of the long arm of chromosome 1]
Autor: I V, Lur'e, L A, Kodunov, N P, Veropotvelian, N V, Rumiantseva, D V, Zaletaev, M G, Belik
Publikováno v: Genetika. 25(12)
Clinical genetic analysis of distal trisomies 1q, based on the study of a t(1; 6) (q42.1; p24) family and the literature data, was performed. It was demonstrated that phenotypical manifestations of the trisomy are formed by nonspecific anomalies, due
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9eedc096b8b14a72e38309e72c3d0f24
https://pubmed.ncbi.nlm.nih.gov/2634579
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