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1.
Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Int J Mol Sci
; 23(21)2022 Oct 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-36361766
2.
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
Biomed Rep
; 14(1): 15, 2021 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-33269076
3.
The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation.
J Trace Elem Med Biol
; 59: 126420, 2020 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-31708252
4.
Analysis of the Spectrum of ACE2 Variation Suggests a Possible Influence of Rare and Common Variants on Susceptibility to COVID-19 and Severity of Outcome.
Front Genet
; 11: 551220, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33133145
5.
Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia.
Mol Genet Genomic Med
; 7(11): e964, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31482689
6.
Wholeexome sequencing in Russian children with nontype 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODYrelated and unrelated genes.
Mol Med Rep
; 20(6): 4905-4914, 2019 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-31638168
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