E-LIB Suche - Ergebnisse für: Luca Stefanucci

1

A genome-wide association study of blood cell morphology id..:

Akbari, Parsa ; Vuckovic, Dragana ; Stefanucci, Luca...
Nature Communications. 14 (2023) 1 - p. , 2023

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

2

The effects of pathogenic and likely pathogenic variants fo..:

Stefanucci, Luca ; Collins, Janine ; Sims, Matthew C....
Blood. 142 (2023) 24 - p. 2055-2068 , 2023

Link: https://doi.org/10.1182/..

3

Non‐coding genetic variation in regulatory elements determi..:

Stefanucci, Luca ; Frontini, Mattia
Journal of Thrombosis and Haemostasis. 20 (2022) 8 - p. 1759-1765 , 2022

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

4

Transcriptional, epigenetic and metabolic signatures in car..:

Seyres, Denis ; Cabassi, Alessandra ; Lambourne, John J....
Clinical Epigenetics. 14 (2022) 1 - p. , 2022

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

5

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/..

6

Familial pseudohyperkalemia induces significantly higher le..:

Meli, Athinoula ; McAndrew, Margaret ; Frary, Amy...
Transfusion. 61 (2021) 8 - p. 2439-2449 , 2021

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

7

A rare coding mutation in the MAST2 gene causes venous thro..:

Morange, Pierre-Emmanuel ; Peiretti, Franck ; Gourhant, Lenaick...
PLOS Genetics. 17 (2021) 1 - p. e1009284 , 2021

Link: https://doi.org/10.1371/..

8

Complex structural variants in Mendelian disorders: identif..:

Sanchis-Juan, Alba ; Stephens, Jonathan ; French, Courtney E....
Genome Medicine. 10 (2018) 1 - p. , 2018

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

9

Selection-free gene repair after adenoviral vector transduc..:

Maggio, Ignazio ; Stefanucci, Luca ; Janssen, Josephine M....
Nucleic Acids Research. 44 (2016) 3 - p. 1449-1470 , 2016

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

10

A genome-wide association study of blood cell morphology id..:

Parsa Akbari ; Dragana Vuckovic ; Luca Stefanucci...
https://doi.org/10.1038/s41467-023-40679-y. , 2023

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

11

Transcriptional, epigenetic and metabolic signatures in car..:

Denis Seyres ; Alessandra Cabassi ; John J Lambourne...
2381/19597339.v1. , 2022

Link: https://figshare.com/art..

12

A rare coding mutation in the MAST2 gene causes venous thro..:

Pierre-Emmanuel Morange ; Franck Peiretti ; Lenaick Gourhant...
https://doi.org/10.1371/journal.pgen.1009284. , 2021

Link: https://doi.org/10.1371/..

13

Complex structural variants in Mendelian disorders: identif..:

Alba Sanchis-Juan ; Jonathan Stephens ; Courtney E. French...
http://link.springer.com/article/10.1186/s13073-018-0606-6. , 2018

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

14

Fig 3 -:

Pierre-Emmanuel Morange (161602) ; Franck Peiretti (121257) ; Lenaick Gourhant (10005300)...
https://figshare.com/articles/figure/Fig_3_-/13610487. , 2021

Link: https://doi.org/10.1371/..

15

Pathway analysis applied to the top 100 most significantly ..:

Pierre-Emmanuel Morange (161602) ; Franck Peiretti (121257) ; Lenaick Gourhant (10005300)...
https://figshare.com/articles/dataset/Pathway_analysis_applied_to_the_top_100_most_significantly_differentiated_mRNA_expressions_according_to_i_MAST2_i_silencing_/13610475. , 2021

Link: https://doi.org/10.1371/..