Detalhe da pesquisa
1.
Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia.
Clin Chem
; 69(3): 239-250, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36683393
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36171182
3.
Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.
Thromb Haemost
; 123(12): 1151-1164, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37285902
4.
A homozygous variant in INTS11 links mitosis and neurogenesis defects to a severe neurodevelopmental disorder.
Cell Rep
; 42(12): 113445, 2023 12 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37980560
5.
A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA).
J Mol Diagn
; 23(9): 1195-1204, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34293487
6.
REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis.
Mol Genet Genomic Med
; 8(11): e1488, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32961042
7.
Effects of Color and Luminance Contrast on Size Perception-Evidence from a Horizontal Parallel Lines Illusion.
Vision (Basel)
; 2(3)2018 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31735891