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1.
Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing.
Klin Lab Diagn
; 67(4): 250-256, 2022 Apr 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-35575400
2.
[Variability and Identification Power 60 X-Cromosome in Two Native Siberian Populations].
Genetika
; 52(4): 493-6, 2016 Apr.
Artículo
en Ruso
| MEDLINE | ID: mdl-27529985
3.
[Open, non-comparative phase III clinical study to evaluate the efficacy and safety of sapropterin in patients with phenylketonuria and hyperphenylalaninemia].
Vestn Ross Akad Med Nauk
; (7-8): 69-77, 2014.
Artículo
en Ruso
| MEDLINE | ID: mdl-25563006
4.
[Prevalence of alleles of polymorphic variants Leu33Pro and Leu66Arg gene ITGB3 among inhabitants of Siberia].
Genetika
; 49(8): 1008-12, 2013 Aug.
Artículo
en Ruso
| MEDLINE | ID: mdl-25474888
5.
[A rare variant in the sortilin-related receptor 1 gene is associated with declined cognitive functions in the elderly]. / Redkii variant v gene sortilinpodobnogo retseptora 1: sviaz' s pokazateliami kognitivnykh funktsii u pozhilykh.
Zh Nevrol Psikhiatr Im S S Korsakova
; 118(5): 92-95, 2018.
Artículo
en Ruso
| MEDLINE | ID: mdl-29927411
6.
[Epidemiology of congenital malformations in Gorno-Altaisk, Altai Republic, Russia]. / Epidemiologii vrozhdennykh porokov razvitiia v g. Gorno-Altaisk (Respublica Altai).
Genetika
; 40(8): 1138-44, 2004 Aug.
Artículo
en Ruso
| MEDLINE | ID: mdl-15523853
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