E-LIB Suche - Ergebnisse für: Turro, E

1

PB0355 Knock-in of Homozygous NBEAL2 Variants to Model Gray..:

Collins, J. ; Foster, H. ; Mayer, L....
Research and Practice in Thrombosis and Haemostasis. 7 (2023) - p. 101493 , 2023

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

2

OC 65.5 Platelet-Specific Gene Dysregulation and Intron Ret..:

Ver Donck, F. ; De Wispelaere, K. ; Ramaekers, K....
Research and Practice in Thrombosis and Haemostasis. 7 (2023) - p. 100537 , 2023

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

3

OC 18.2 A Signature of Platelet Reactivity in Complete Bloo..:

Verdier, H. ; Downes, K. ; Astle, W..
Research and Practice in Thrombosis and Haemostasis. 7 (2023) - p. 100574 , 2023

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

4

High‐throughput sequencing approaches for diagnosing heredi..:

Freson, K. ; Turro, E.
Journal of Thrombosis and Haemostasis. 15 (2017) 7 - p. 1262-1272 , 2017

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

5

A comparative study of RNA-seq analysis strategies:

Janes, J. ; Hu, F. ; Lewin, A..
Briefings in Bioinformatics. 16 (2015) 6 - p. 932-940 , 2015

Link: https://doi.org/10.1093/..

6

The malignant phenotype in breast cancer is driven by eIF4A..:

Modelska, A ; Turro, E ; Russell, R...
Cell Death & Disease. 6 (2015) 1 - p. e1603-e1603 , 2015

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

7

384: The role of ODZ4 in epithelial cancers:

Mirza, T. ; Howarth, K.D. ; Turro, E...
European Journal of Cancer. 50 (2014) - p. S91-S92 , 2014

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

8

Genetic association analysis of 77,539 genomes reveals rare..:

Greene, D ; Genomics England Research Consortium ; Pirri, D...
https://openaccess.sgul.ac.uk/id/eprint/115131/6/s41591-023-02211-z.pdf. , 2023

Link: https://openaccess.sgul...

9

Genetic association analysis of 77,539 genomes reveals rare..:

Greene, D ; Genomics England Research Consortium ; Pirri, D...
Nature Medicine. , 2023

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

10

Nuclear-mitochondrial DNA segments resemble paternally inhe..:

Wei, W ; Pagnamenta, AT ; Gleadall, N...
doi:10.1038/s41467-020-15336-3. , 2020

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

11

Next‐generation sequencing for the diagnosis of MYH9‐RD: Pr..:

Bury, L ; Megy, K ; Stephens, JC...
doi:10.1002/humu.23927. , 2020

Link: https://doi.org/10.1002/..

12

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

Turro, E ; Astle, WJ ; Megy, K...
doi:10.1038/s41586-020-2434-2. , 2020

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

13

Nuclear-mitochondrial DNA segments resemble paternally inhe..:

Wei, W ; Pagnamenta, AT ; Gleadall, N...
https://discovery.ucl.ac.uk/id/eprint/10095015/1/s41467-020-15336-3.pdf. , 2020

Link: https://discovery.ucl.ac..

14

Mutational and phenotypic characterisation of hereditary he..:

Shovlin, C ; Simeoni, I ; Downes, K...
https://discovery.ucl.ac.uk/id/eprint/10103306/1/Kell_Mutational%20and%20phenotypic%20characterisation%20of%20hereditary%20hemorrhagic%20telangiectasia_AAM.pdf. , 2020

Link: https://discovery.ucl.ac..

15

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

Turro, E ; Astle, WJ ; Megy, K...
https://discovery.ucl.ac.uk/id/eprint/10103489/1/Gale_Whole-genome%20sequencing%20of%20patients%20with%20rare%20diseases%20in%20a%20national%20health%20system_AAM.pdf. , 2020

Link: https://discovery.ucl.ac..