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1.
Molecular characterization of a novel 83.9-kb deletion of the α-globin upstream regulatory elements by long-read sequencing.
Blood Cells Mol Dis
; 103: 102764, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37336681
2.
Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing.
Clin Chem
; 68(12): 1529-1540, 2022 12 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36171182
3.
Design, synthesis and antibacterial activity evaluation of ebselen derivatives in NDM-1 producing bacteria.
RSC Med Chem
; 15(6): 1959-1972, 2024 Jun 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-38903944
4.
A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy.
Clin Chim Acta
; 553: 117743, 2024 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38158006
5.
Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome.
Clin Chim Acta
; 551: 117614, 2023 Nov 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38375623
6.
Case report: Long-read sequencing identified a novel 14.9-kb deletion of the α-globin gene locus in a family with α-thalassemia in China.
Front Genet
; 14: 1156071, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36936435
7.
The comprehensive analysis of thalassemia alleles (CATSA) based on single-molecule real-time technology (SMRT) is a more powerful strategy in the diagnosis of thalassemia caused by rare variants.
Clin Chim Acta
; 551: 117619, 2023 Nov 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38375625
8.
Identification of a novel 10.3 kb deletion causing α0-thalassemia by third-generation sequencing: Pedigree analysis and genetic diagnosis.
Clin Biochem
; 113: 64-69, 2023 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-36610469
9.
Knocking out Analysis of the CpxP gene using Crispr/Cas9 in Escherichia coli MG1655.
AMB Express
; 10(1): 172, 2020 Sep 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-32979149
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