Detalhe da pesquisa
1.
Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.
Brain
; 147(4): 1278-1293, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37956038
2.
Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion.
Hum Genet
; 142(8): 1043-1053, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37186029
3.
Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene.
Metab Brain Dis
; 35(6): 1009-1016, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32240488
4.
De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features.
J Hum Genet
; 63(8): 919-922, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29760529
5.
Tumor-associated macrophages respond to chemotherapy by detrimental transcriptional reprogramming and suppressing stabilin-1 mediated clearance of EGF.
Front Immunol
; 14: 1000497, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36960065
6.
Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene.
Front Genet
; 13: 888481, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35711923
7.
Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease.
Cells
; 10(10)2021 10 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34685729
8.
Investigation of somatic PIK3CA gene mutations in breast cancer patients.
J BUON
; 26(3): 747-752, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34268930
9.
Multiple Chromoanasynthesis in a Rare Case of Sporadic Renal Leiomyosarcoma: A Case Report.
Front Oncol
; 10: 1653, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32974204
10.
Accurate fetal variant calling in the presence of maternal cell contamination.
Eur J Hum Genet
; 28(11): 1615-1623, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32728107
11.
A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region.
BMC Med Genomics
; 13(Suppl 8): 130, 2020 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32948199
12.
Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome.
J Autism Dev Disord
; 51(6): 2159-2163, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32816169