E-LIB Suche - Ergebnisse für: Stefanucci, Luca

1

SMIM1 absence is associated with reduced energy expenditure..:

Stefanucci, Luca ; Moslemi, Camous ; Tomé, Ana R....
Med. 5 (2024) 9 - p. 1083-1095.e6 , 2024

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

2

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/..

3

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/..

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

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/..

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

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/..

9

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/..

10

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/..

11

SMIM1 absence is associated with reduced energy expenditure..:

Stefanucci, Luca ; Moslemi, Camous ; Tomé, Ana R...
https://vbn.aau.dk/da/publications/4bfa738a-441c-47f1-8840-a7f2a55d55f3. , 2024

Link: https://vbn.aau.dk/da/pu..

12

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

Akbari, Parsa ; Vuckovic, Dragana ; Stefanucci, Luca...
https://research.vumc.nl/en/publications/5867aaeb-49b8-4d95-a110-34d373f3344d. , 2023

Link: https://research.vumc.nl..

13

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..

14

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

Stefanucci, Luca ; Collins, Janine H ; Sims, Matthew Christopher...
https://research-information.bris.ac.uk/en/publications/dbff0e08-03ec-41dc-94e3-e82b2172a1ef. , 2023

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

15

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..