E-LIB Suche - Ergebnisse für: Claire Hopton

1

Characterization of the mechanism by which a nonsense varia..:

Hopton, Claire ; Tijsen, Anke J. ; Maizels, Leonid...
Physiological Reports. 10 (2022) 8 - p. , 2022

Link: https://doi.org/10.14814..

2

Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in ..:

Wood, Katherine A. ; Ellingford, Jamie M. ; Eden, James...
Cardiogenetics. 11 (2021) 2 - p. 73-83 , 2021

Link: https://doi.org/10.3390/..

3

Classification and correlation of RYR2 missense variants in..:

Olubando, Damilola ; Hopton, Claire ; Eden, James...
Journal of Human Genetics. 65 (2020) 6 - p. 531-539 , 2020

Link: https://doi.org/10.1038/..

4

Characterization of the mechanism by which a nonsense varia..:

Claire Hopton ; Anke J. Tijsen ; Leonid Maizels...
https://doi.org/10.14814/phy2.15265. , 2022

Link: https://doi.org/10.14814..

5

Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in ..:

Katherine A. Wood ; Jamie M. Ellingford ; James Eden...
https://dx.doi.org/10.3390/cardiogenetics11020009. , 2021

Link: https://doi.org/10.3390/..

6

Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in ..:

Katherine A. Wood ; Jamie M. Ellingford ; James Eden...
https://www.mdpi.com/2035-8148/11/2/9. , 2021

Link: https://doi.org/10.3390/..

7

Characterization of the mechanism by which a nonsense varia..:

Hopton, Claire ; Newman, William ; Brown, Benjamin David...
Hopton , C , Newman , W , Brown , B D , Kimber , S , Venetucci , L & Gepstein , L 2022 , ' Characterization of the mechanism by which a nonsense variant in RYR2 leads to disordered calcium handling ' , Physiological Reports , vol. 10 , no. 8 , e15265 . https://doi.org/10.14814/phy2.15265. , 2022

Link: https://research.manches..

8

Characterization of the mechanism by which a nonsense varia..:

Hopton, Claire ; Tijsen, Anke J ; Maizels, Leonid...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9017975/. , 2022

Link: http://www.ncbi.nlm.nih...

9

Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in ..:

Wood, Katherine A ; Ellingford, Jamie M ; Eden, James...
https://chesterrep.openrepository.com/bitstream/handle/10034/624846/additional-files.zip?sequence=2. , 2021

Link: http://hdl.handle.net/10..

10

Pathogenic intronic splice-affecting variants in MYBPC3 in ..:

Newman, William ; Wood, Katherine ; Thomas, Huw...
Newman , W , Wood , K , Thomas , H , Ellingford , J , O'Keefe , R , Hopton , C & Eden , J 2021 , ' Pathogenic intronic splice-affecting variants in MYBPC3 in three patients with hypertrophic cardiomyopathy ' , Cardiogenetics , vol. 11 , no. 2 , pp. 73-83 . https://doi.org/10.3390/cardiogenetics11020009. , 2021

Link: https://research.manches..

11

Classification and correlation of RYR2 missense variants in..:

Olubando, Damilola ; Hopton, Claire ; Eden, James...
Olubando , D , Hopton , C , Eden , J , Caswell , R , Thomas , N L , Roberts , S A , Venetucci , L & Newman , W 2020 , ' Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships ' , Journal of Human Genetics , vol. 65 , pp. 531-539 . https://doi.org/10.1038/s10038-020-0738-6. , 2020

Link: https://research.manches..

12

The Round Table: Should Writing Teachers Write? The Convers..:

BFN ; McAuliffe, Brian ; Jellum, Shirlee R....
The English Journal. 80 (1991) 3 - p. 78-83 , 1991

Link: https://www.jstor.org/st..

13

Development and validation of a risk prediction model to di..:

Avi Rosenfeld, PhD ; David G Graham, MBBS ; Sarah Jevons, PhD...
http://www.sciencedirect.com/science/article/pii/S258975001930216X. , 2020

Link: https://doi.org/10.1016/..

14

Genomic investigations of unexplained acute hepatitis in ch..:

Morfopoulou, Sofia ; Buddle, Sarah ; Torres Montaguth, Oscar Enrique...
https://eprints.gla.ac.uk/298604/1/298604.pdf. , 2023

Link: https://eprints.gla.ac.u..

15

A global database of nitrogen and phosphorus excretion rate..:

Vanni, Michael ; Mcintyre, Peter ; Allen, Dennis...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ecy.1792. , 2017

Link: https://hal.science/hal-..