E-LIB Suche - Ergebnisse für: Stefanucci, Luca

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..:

Akbari, Parsa ; Vuckovic, Dragana ; Stefanucci, Luca...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10439125/. , 2023

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

11

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

Akbari, Parsa ; Vuckovic, Dragana ; Stefanucci, Luca...
https://www.repository.cam.ac.uk/handle/1810/355911. , 2023

Link: https://www.repository.c..

12

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

Akbari, Parsa ; Vuckovic, Dragana ; Stefanucci, Luca...
https://www.repository.cam.ac.uk/handle/1810/354772. , 2023

Link: https://www.repository.c..

13

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

Stefanucci, Luca ; Collins, Janine ; Sims, Matthew C...
info:eu-repo/semantics/altIdentifier/doi/10.1182/blood.2023020118. , 2023

Link: https://hdl.handle.net/2..

14

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

Stefanucci, Luca ; Collins, Janine ; Sims, Matthew C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10733830/. , 2023

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

15

The effects of pathogenic variants for inherited hemostasis..:

Stefanucci, Luca ; Collins, Janine H ; Sims, Matthew Christopher...
Stefanucci , L , Collins , J H , Sims , M C , Barrio-Hernandez , I , Sun , L , Burren , O , Perfetto , L , Bender , I , Callahan , T J , Fleming , K , Guerrero , J A , Hermjakob , H , Martin , M J , Stephenson , J D , Paneerselvam , K , Petrovski , S , Porras , P , Wang , Q , Watkins , X , Frontini , M , Laskowski , R A , Beltrao , P , Di Angelantonio , E , Gomez , K , Laffan , M , Ouwehand , W H , Mumford , A D , Freson , K , Carss , K J , Downes , K , Gleadall , N S , Megy , K , Bruford , E & Vuckovic , D 2023 , ' The effects of pathogenic variants for inherited hemostasis disorders in 140,214 UK Biobank participants ' , Blood , vol. 142 , no. 24 , pp. 2055-2068 . https://doi.org/10.1182/blood.2023020118. , 2023

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