Suchergebnisse - "Thomson, Kate"

PubPharm (100)

1

The penetrance of rare variants in cardiomyopathy-associated genes: a cross-sectional approach to estimate penetrance for secondary findings

enthalten in: bioRxiv.org | 2024

von McGurk, K. | Zhang, X. | Theotokis, P. | +20

2

Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay

enthalten in: HGG advances | 2024

von Thomson, K. | Jiang, C. | Richardson, E. | +10

3

A rare splice-site variant in cardiac troponin-T (TNNT2): The need for ancestral diversity in genomic reference datasets

enthalten in: bioRxiv.org | 2024

von Butters, A. | Thomson, K. | Harrington, F. | +28

4

Secondary (additional) findings from the 100,000 Genomes Project : Disease manifestation, health care outcomes, and costs of disclosure

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2024

von Nolan, J. | Buchanan, J. | Taylor, J. | +41

5

A Promoter Deletion Confirms That MYBPC3 Haploinsufficiency Is Sufficient to Cause Hypertrophic Cardiomyopathy in Humans

enthalten in: Circulation. Genomic and precision medicine | 2024

von Hayesmoore, J. | Bowman, M. | Shannon, N. | +3

6

Clinical educator expertise : A scoping review

enthalten in: The clinical teacher | 2024

von Evans, G. | Penman, M. | Thomson, K.

7

Multi-site validation of a functional assay to adjudicateSCN5ABrugada Syndrome-associated variants

enthalten in: bioRxiv.org | 2023

von Ma, J. | O’Neill, M. | Richardson, E. | +17

8

Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants

enthalten in: medRxiv : the preprint server for health sciences | 2023

von Ma, J. | O'Neill, M. | Richardson, E. | +17

9

The role of the serotonergic system in atropine's anti-myopic effects

enthalten in: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie | 2023

von Thomson, K. | Karouta, C. | Weber, D. | +4

10

Clinical interpretation ofKCNH2variants using a robust PS3/BS3 functional patch clamp assay

enthalten in: bioRxiv.org | 2023

von Thomson, K. | Jiang, C. | Richardson, E. | +10

1
2
3
4
5
6
7
8
9
10
Nächster »
[10]