Detalhe da pesquisa
1.
Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Int J Mol Sci
; 23(21)2022 Oct 26.
Artigo
Inglês
| MEDLINE | ID: mdl-36361766
2.
Signatures of Dermal Fibroblasts from RDEB Pediatric Patients.
Int J Mol Sci
; 22(4)2021 Feb 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33670258
3.
Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.
Clin Chim Acta
; 436: 112-20, 2014 Sep 25.
Artigo
Inglês
| MEDLINE | ID: mdl-24875751
4.
Genetic analysis of 17 children with Hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.
J Genet Genomics
; 41(4): 197-203, 2014 Apr 20.
Artigo
Inglês
| MEDLINE | ID: mdl-24780617