E-LIB Suche - Ergebnisse für: Efthymiou, Andrea

1

Bi-allelic genetic variants in the translational GTPases GT..:

Salpietro, Vincenzo ; Maroofian, Reza ; Zaki, Maha S....
The American Journal of Human Genetics. 111 (2024) 1 - p. 200-210 , 2024

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

2

Qibolab: an open-source hybrid quantum operating system:

Efthymiou, Stavros ; Orgaz-Fuertes, Alvaro ; Carobene, Rodolfo...
Quantum. 8 (2024) - p. 1247 , 2024

Link: https://doi.org/10.22331..

3

Bi-allelic genetic variants in the translational GTPases GT..:

Salpietro, Vincenzo ; Maroofian, Reza ; Zaki, Maha S...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10806450/. , 2024

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

4

A Taxonomy of Life Writing: Exploring the Functions of Mean..:

Lindenman, Heather ; Driscoll, Dana Lynn ; Efthymiou, Andrea..
Written Communication. 41 (2023) 1 - p. 70-106 , 2023

Link: https://doi.org/10.1177/..

5

ICeGaNTM technology: The easy-to-use and self-protected GaN..:

Longobardi, Giorgia ; Efthymiou, Loizos ; Findlay, John...
Power Electronic Devices and Components. 4 (2023) - p. 100028 , 2023

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

6

Missense variants in RPH3A cause defects in excitatory syna..:

Pavinato, Lisa ; Stanic, Jennifer ; Barzasi, Marta...
Genetics in Medicine. 25 (2023) 11 - p. 100922 , 2023

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

7

Optical Genome Mapping Enables Detection and Accurate Sizin..:

Facchini, Stefano ; Dominik, Natalia ; Manini, Arianna...
Biomolecules. 13 (2023) 10 - p. 1546 , 2023

Link: https://doi.org/10.3390/..

8

Optical Genome Mapping for the Molecular Diagnosis of Facio..:

Efthymiou, Stephanie ; Lemmers, Richard J. L. F. ; Vishnu, Venugopalan Y....
Biomolecules. 13 (2023) 11 - p. 1567 , 2023

Link: https://doi.org/10.3390/..

9

Doing More with Barely Enough: Narratives of an Undergradua..:

Efthymiou, Andrea Rosso ; Zea, Santiago
The Writing Center Journal. 41 (2023) 1 - p. 87-98 , 2023

Link: https://www.jstor.org/st..

10

Multimodal locoregional procedures for cancer pain manageme..:

Iezzi, Roberto ; Kovács, György ; Dimov, Vladimir...
The British Journal of Radiology. 96 (2023) 1143 - p. , 2023

Link: https://doi.org/10.1259/..

11

Genotype–phenotype correlation in contactin-associated prot..:

D'Onofrio, Gianluca ; Accogli, Andrea ; Severino, Mariasavina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10329570/. , 2023

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

12

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
https://doi.org/10.1016/j.gim.2023.100018. , 2023

Link: http://orbilu.uni.lu/han..

13

qiboteam/qibo: Qibo 0.1.13:

Stavros Efthymiou ; Stefano Carrazza ; Renato Mello...
https://github.com/qiboteam/qibo/tree/v0.1.13. , 2023

Link: https://zenodo.org/recor..

14

Lunapark deficiency leads to an autosomal recessive neurode..:

Accogli, Andrea ; Zaki, Maha S ; Al-Owain, Mohammed...
https://discovery.ucl.ac.uk/id/eprint/10178661/1/Efthymiou_Lunapark%20deficiency%20leads%20to%20an%20autosomal%20recessive%20neurodevelopmental%20phenotype%20with%20a%20degenerative%20course,%20epilepsy%20and%20distinct%20brain%20anomalies_VoR.pdf. , 2023

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

15

qiboteam/qibo: Qibo 0.1.16:

Stavros Efthymiou ; Stefano Carrazza ; Renato Mello...
https://github.com/qiboteam/qibo/tree/v0.1.16. , 2023

Link: https://zenodo.org/recor..