E-LIB Suche - Ergebnisse für: Stephens, Jonathan

1

Genome sequencing and comprehensive rare-variant analysis o..:

Sanchis-Juan, Alba ; Megy, Karyn ; Stephens, Jonathan...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1343-1355 , 2023

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

2

Test data analysis of the thermodynamic vent system-augment..:

Hartwig, Jason ; Stephens, Jonathan ; Rhys, Noah...
International Journal of Heat and Mass Transfer. 194 (2022) - p. 122986 , 2022

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

3

Long-Read Sequencing Identifies the First Retrotransposon I..:

de la Morena-Barrio, Belén ; Stephens, Jonathan ; de la Morena-Barrio, María Eugenia...
Thrombosis and Haemostasis. 122 (2022) 8 - p. 1369-1378 , 2022

Link: https://doi.org/10.1055/..

4

A new pedigree with thrombomodulin‐associated coagulopathy ..:

Westbury, Sarah K. ; Whyte, Claire S. ; Stephens, Jonathan...
Journal of Thrombosis and Haemostasis. 18 (2020) 9 - p. 2209-2214 , 2020

Link: https://doi.org/10.1111/..

5

Nuclear-mitochondrial DNA segments resemble paternally inhe..:

Wei, Wei ; Pagnamenta, Alistair T. ; Gleadall, Nicholas...
Nature Communications. 11 (2020) 1 - p. , 2020

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

6

CROSSING MUSICAL FRONTIERS (Scottish Voices, Bowyer, Sander..

Naxos Music Library

Emre, Yunus ; Hair, Graham ; Faiz, Süha... , 2020

Link: http://suub.naxosmusicli..

7

Multiple GYPB gene deletions associated with the U− phenoty..:

Lane, William J. ; Gleadall, Nicholas S. ; Aeschlimann, Judith...
Transfusion. 60 (2020) 6 - p. 1294-1307 , 2020

Link: https://doi.org/10.1111/..

8

Whole-genome sequencing of patients with rare diseases in a..:

Turro, Ernest ; Astle, William J. ; Megy, Karyn...
Nature. 583 (2020) 7814 - p. 96-102 , 2020

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

9

Secondary findings in inherited heart conditions: a genotyp..:

Ormondroyd, Elizabeth ; Harper, Andrew R. ; Thomson, Kate L....
European Journal of Human Genetics. 28 (2020) 11 - p. 1486-1496 , 2020

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

10

Whole-genome sequencing of a sporadic primary immunodeficie..:

Thaventhiran, James E. D. ; Lango Allen, Hana ; Burren, Oliver S....
Nature. 583 (2020) 7814 - p. 90-95 , 2020

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

11

A decade-long perspective of trainee confidence in difficul..:

May, Rosie ; Stephens, Jonathan ; Vaughan, David.
Trends in Anaesthesia and Critical Care. 30 (2020) - p. e27 , 2020

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

12

Publisher Correction: Whole-genome sequencing of a sporadic..:

Thaventhiran, James E. D. ; Lango Allen, Hana ; Burren, Oliver S....
Nature. 584 (2020) 7819 - p. E2-E2 , 2020

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

13

Author Correction: Nuclear-mitochondrial DNA segments resem..:

Wei, Wei ; Pagnamenta, Alistair T. ; Gleadall, Nicholas...
Nature Communications. 11 (2020) 1 - p. , 2020

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

14

Suitability of SCS1 as a Pre-CS2 Assessment Instrument :..:

, In: Proceedings of the 2020 ACM Southeast Conference,

Song, Yang ; Xiao, Yunkai ; Stephens, Jonathan... - p. 313-314 , 2020

Link: https://dl.acm.org/doi/1..

15

Loss of the interleukin-6 receptor causes immunodeficiency,..:

Spencer, Sarah ; Köstel Bal, Sevgi ; Egner, William...
Journal of Experimental Medicine. 216 (2019) 9 - p. 1986-1998 , 2019

Link: https://doi.org/10.1084/..