E-LIB Suche - Ergebnisse für: Gueguen, Paul

1

Recurrent ATP1A1 variant Gly903Arg causes developmental del..:

Dohrn, Maike F. ; Bademci, Guney ; Rebelo, Adriana P....
Annals of Clinical and Translational Neurology. 11 (2024) 4 - p. 1075-1079 , 2024

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

2

Semi-supervised integration of single-cell transcriptomics ..:

Andreatta, Massimo ; Hérault, Léonard ; Gueguen, Paul...
Nature Communications. 15 (2024) 1 - p. , 2024

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

3

Sweet ending: When genetics prevent a dramatic CDG diagnost..:

Civit, Antoine ; Gueguen, Paul ; Blasco, Helene...
Clinica Chimica Acta. 551 (2023) - p. 117620 , 2023

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

4

SpliceAI-visual: a free online tool to improve SpliceAI spl..:

de Sainte Agathe, Jean-Madeleine ; Filser, Mathilde ; Isidor, Bertrand...
Human Genomics. 17 (2023) 1 - p. , 2023

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

5

Description of Copy Number Variations in a Series of Childr..:

Sennsfelder, Laëtitia ; Guilly, Susie ; Leruste, Sébastien...
Children. 10 (2023) 4 - p. 694 , 2023

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

6

STAC3 related congenital myopathy: A case series of seven C..:

Gromand, Marie ; Gueguen, Paul ; Pervillé, Anne...
European Journal of Medical Genetics. 65 (2022) 10 - p. 104598 , 2022

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

7

Extracellular vesicles from triple negative breast cancer p..:

Tkach, Mercedes ; Thalmensi, Jessie ; Timperi, Eleonora...
Proceedings of the National Academy of Sciences. 119 (2022) 17 - p. , 2022

Link: https://doi.org/10.1073/..

8

CD8+T cell responsiveness to anti-PD-1 is epigenetically re..:

Niborski, Leticia Laura ; Gueguen, Paul ; Ye, Mengliang...
Nature Communications. 13 (2022) 1 - p. , 2022

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

9

Correction: An essential role for α4A-tubulin in platelet b..:

Strassel, Catherine ; Magiera, Maria M ; Dupuis, Arnaud...
Life Science Alliance. 4 (2021) 8 - p. e202101132 , 2021

Link: https://doi.org/10.26508..

10

Mutations in the most divergent α‐tubulin isotype, α8‐tubul..:

Kimmerlin, Quentin ; Dupuis, Arnaud ; Bodakuntla, Satish...
Journal of Thrombosis and Haemostasis. 20 (2021) 2 - p. 461-469 , 2021

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

11

Pathogenic and likely pathogenic variants in at least five ..:

Guéguen, Paul ; Dupuis, Arnaud ; Py, Jean‐Yves...
Transfusion. 60 (2020) 10 - p. 2419-2431 , 2020

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

12

Sensitive detection methods are key to identify secondary E..:

Keppens, Cleo ; Dequeker, Elisabeth M. C. ; Rouleau, Etienne...
BMC Cancer. 20 (2020) 1 - p. , 2020

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

13

High prevalence ofBardet‐Biedlsyndrome inLa RéunionIslandis..:

Gouronc, Aurélie ; Zilliox, Vincent ; Jacquemont, Marie‐Line...
Clinical Genetics. 98 (2020) 2 - p. 166-171 , 2020

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

14

Human lymphoid organ cDC2 and macrophages play complementar..:

Durand, Mélanie ; Walter, Thomas ; Pirnay, Tiphène...
Journal of Experimental Medicine. 216 (2019) 7 - p. 1561-1581 , 2019

Link: https://doi.org/10.1084/..

15

An essential role for α4A-tubulin in platelet biogenesis:

Strassel, Catherine ; Magiera, Maria M ; Dupuis, Arnaud...
Life Science Alliance. 2 (2019) 1 - p. e201900309 , 2019

Link: https://doi.org/10.26508..