Detalhe da pesquisa
1.
Confirmation of Insertion, Deletion, and Deletion-Insertion Variants Detected by Next-Generation Sequencing.
Clin Chem
; 69(10): 1155-1162, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37566393
2.
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
Am J Med Genet A
; 185(1): 213-218, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33044030
3.
Rapid and Direct Detection of Congenital Cytomegalovirus Using a Commercial Real-Time PCR Assay.
J Clin Microbiol
; 61(3): e0178122, 2023 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36786642
4.
Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy.
Clin Chem
; 64(12): 1753-1761, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30352867
5.
Applying Standard Clinical Chemistry Assay Validation to Droplet Digital PCR Quantitative Liquid Biopsy Testing.
Clin Chem
; 64(12): 1732-1742, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30237149
6.
Predicting Prognosis in CPEO With mtDNA Deletions: A Case Demonstrating the Advantages of Measuring Heteroplasmy With Novel Droplet Digital Polymerase Chain Reaction Testing.
J Neuroophthalmol
; 43(4): e260-e263, 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35483062
7.
Aminoglycoside induced ototoxicity risk in the cystic fibrosis population: The utility of large-scale screening.
Pediatr Pulmonol
; 58(3): 819-824, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36437230
8.
m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity.
Cell Rep
; 31(3): 107538, 2020 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32320658
9.
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.
PLoS One
; 14(10): e0223337, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31577830
10.
A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening.
J Mol Diagn
; 19(5): 755-765, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28826609
11.
Individualized correction of neuron-specific enolase (NSE) measurement in hemolyzed serum samples.
Clin Chim Acta
; 424: 216-21, 2013 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-23778024
12.
Development and validation of a comprehensive mutation and deletion detection assay for SDHB, SDHC, and SDHD.
Clin Biochem
; 43(7-8): 700-4, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20153743