E-LIB Suche - Ergebnisse für: Whiffin, A.C

1

Genetic constraint at single amino acid resolution in prote..:

Zhang, Xiaolei ; Theotokis, Pantazis I. ; Li, Nicholas...
Genome Medicine. 16 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

2

Differences in 5'untranslated regions highlight the importa..:

Wieder, Nechama ; D'Souza, Elston N. ; Martin-Geary, Alexandra C....
Genome Biology. 25 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

3

Variant Location Is a Novel Risk Factor for Individuals wit..:

Hoorntje, Edgar T ; Burns, Charlotte ; Marsili, Luisa...
https://research.rug.nl/en/publications/a32f309e-3264-4ca4-bbdb-dd0e9a794f3b. , 2023

Link: https://hdl.handle.net/1..

4

Neuro_Qual: a qualitative resource for neurosurgery:

Whiffin, C.J. ; Smith, B.G. ; Selveindran, S....
Brain and Spine. 2 (2022) - p. 101656 , 2022

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

5

MRSD: A quantitative approach for assessing suitability of ..:

Rowlands, Charlie F. ; Taylor, Algy ; Rice, Gillian...
The American Journal of Human Genetics. 109 (2022) 2 - p. 210-222 , 2022

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

6

Challenges of long-term follow-up following Traumatic Brain..:

Smith, B.G. ; Whiffin, C.J. ; Esene, I.N....
Brain and Spine. 2 (2022) - p. 101361 , 2022

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

7

Precision Phenotyping of Dilated Cardiomyopathy Using Multi..:

Tayal, Upasana ; Verdonschot, Job A.J. ; Hazebroek, Mark R....
Journal of the American College of Cardiology. 79 (2022) 22 - p. 2219-2232 , 2022

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

8

Recommendations for clinical interpretation of variants fou..:

Ellingford, Jamie M. ; Ahn, Joo Wook ; Bagnall, Richard D....
Genome Medicine. 14 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

9

Recommendations for clinical interpretation of variants fou..:

Ellingford, J. M ; Ahn, J. W ; Bagnall, R. D...
https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-022-01073-3. , 2022

Link: https://hdl.handle.net/1..

10

Recommendations for clinical interpretation of variants fou..:

Ellingford, Jamie M ; Ahn, Joo Wook ; Bagnall, Richard D...
doi:10.17863/CAM.87697. , 2022

Link: https://doi.org/10.17863..

11

A systematic analysis of splicing variants identifies new d..:

Blakes, A.J.M ; Wai, H.A ; Davies, I...
https://eprints.whiterose.ac.uk/207750/1/A%20systematic%20analysis%20of%20splicing%20variants%20identifies%20new%20diagnoses%20in%20the%20100,000%20Genomes%20Project.pdf. , 2022

Link: https://eprints.whiteros..

12

Challenges of long-term follow-up following Traumatic Brain..:

B.G. Smith ; C.J. Whiffin ; I.N. Esene...
http://www.sciencedirect.com/science/article/pii/S2772529422005021. , 2022

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

13

First large-scale quantification study of DNA preservation ..:

Mullin, VE ; Stephen, W ; Arce, AN...
Methods in Ecology and Evolution. , 2022

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

14

Quantifying evidence toward pathogenicity for rare phenotyp..:

Garrett, A ; Loveday, C ; King, L...
Genetics in medicine : official journal of the American College of Medical Genetics, 2022, 24 (1), pp. 41 - 50. , 2022

Link: https://repository.icr.a..

15

Do ditch‐side electric fences improve the breeding producti..:

Verhoeven, M.A ; Jelle Loonstra, A.H ; Pringle, T...
info:eu-repo/semantics/altIdentifier/wos/000789937700001. , 2022

Link: https://www.vliz.be/imis..