Detalhe da pesquisa
1.
Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.
Int J Mol Sci
; 24(14)2023 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511516
2.
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.
Int J Mol Sci
; 23(14)2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35887114
3.
Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.
Int J Mol Sci
; 23(24)2022 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36555390
4.
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
Biomed Rep
; 14(1): 15, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33269076
5.
Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome.
Eur J Med Genet
; 63(12): 104088, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33069932