Detalhe da pesquisa
1.
Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.
J Allergy Clin Immunol
; 152(3): 771-782, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37150360
2.
Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children.
Int J Mol Sci
; 23(22)2022 Nov 18.
Artigo
Inglês
| MEDLINE | ID: mdl-36430820
3.
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
4.
Signatures of Dermal Fibroblasts from RDEB Pediatric Patients.
Int J Mol Sci
; 22(4)2021 Feb 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33670258
5.
Fabry disease in children: a federal screening programme in Russia.
Eur J Pediatr
; 176(10): 1385-1391, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28871487
6.
Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.
Genes (Basel)
; 14(11)2023 Oct 28.
Artigo
Inglês
| MEDLINE | ID: mdl-38002959
7.
Clinical features of pediatric Danon disease and the importance of early diagnosis.
Int J Cardiol
; 389: 131189, 2023 10 15.
Artigo
Inglês
| MEDLINE | ID: mdl-37454822
8.
Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study.
Front Med (Lausanne)
; 10: 1257045, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-38034538
9.
The Prevalence and Clinical Features of Fabry Disease in Hemodialysis Patients: Russian Nationwide Fabry Dialysis Screening Program.
Nephron
; 141(4): 249-255, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-30677769