Detalhe da pesquisa
1.
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Genet Med
; 26(2): 101012, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37924259
2.
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
Clin Genet
; 103(3): 288-300, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36353900
3.
The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence.
Genet Med
; 24(3): 694-702, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34906497
4.
Pericardin, a Drosophila collagen, facilitates accumulation of hemocytes at the heart.
Dev Biol
; 454(1): 52-65, 2019 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31228417
5.
Bending Drosophila larva using a microfluidic device enables imaging of its brain and nervous system at single neuronal resolution.
Lab Chip
; 23(2): 295-305, 2023 01 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36537269
6.
Diverse Oncogenic Fusions and Distinct Gene Expression Patterns Define the Genomic Landscape of Pediatric Papillary Thyroid Carcinoma.
Cancer Res
; 81(22): 5625-5637, 2021 11 15.
Artigo
Inglês
| MEDLINE | ID: mdl-34535459
7.
A Cross-Sectional Study of Nemaline Myopathy.
Neurology
; 96(10): e1425-e1436, 2021 03 09.
Artigo
Inglês
| MEDLINE | ID: mdl-33397769
8.
Chloroform and desflurane immobilization with recovery of viable Drosophila larvae for confocal imaging.
J Insect Physiol
; 117: 103900, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31202852
9.
DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma.
J Clin Endocrinol Metab
; 103(5): 2009-2015, 2018 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29474644
10.
A microfluidic microinjector for toxicological and developmental studies in Drosophila embryos.
Lab Chip
; 17(22): 3898-3908, 2017 11 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29058002