E-LIB Suche - Ergebnisse für: Faure, Julien

1

An empirical exploration of the subjectivity problem of inf..:

Van der Sluis, Frans ; Faure, Julien ; Homnual, Sofie Phutachard
Journal of the Association for Information Science and Technology. 75 (2024) 7 - p. 829-843 , 2024

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

2

Functional benefit of CRISPR-Cas9-induced allele deletion f..:

Beaufils, Mathilde ; Melka, Margaux ; Brocard, Julie...
Molecular Therapy - Nucleic Acids. 35 (2024) 3 - p. 102259 , 2024

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

3

Dysregulation of CaV1.1 due to a CACNA2D4 mutation causing ..:

de la Rosa, Juan A.M. ; Fall, Allioune ; Roux-Buisson, Natalie...
Biophysical Journal. 123 (2024) 3 - p. 13a , 2024

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

4

Gene therapies for RyR1-related myopathies:

Marty, Isabelle ; Beaufils, Mathilde ; Fauré, Julien.
Current Opinion in Pharmacology. 68 (2023) - p. 102330 , 2023

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

5

Quality Conversations and Considerations on Reddit:

, In: Proceedings of the 2023 Conference on Human Information Interaction and Retrieval,

Van Der Sluis, Frans ; Faure, Julien ; Phutachard Homnual, Sofie - p. 373-377 , 2023

Link: https://dl.acm.org/doi/1..

6

Diagnostic work-up and phenotypic characteristics of a fami..:

Dabaj, Ivana ; Carlier, Robert Y. ; Dieterich, Klaus...
Frontiers in Genetics. 13 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

7

Gene therapy strategies using CRISPR/Cas9 for RyR1-related ..:

Beaufils, Mathilde ; Brocard, Julie ; Faure, Julien..
Biophysical Journal. 122 (2023) 3 - p. 239a-240a , 2023

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

8

Prenatal diagnosis of Lowe syndrome in a male fetus with is..:

Rouxel, Flavien ; Fauré, Julien ; Faure, Jean-Michel...
Heliyon. 8 (2022) 12 - p. e12210 , 2022

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

9

Severe ACTA1-related nemaline myopathy: intranuclear rods, ..:

Labasse, Clémence ; Brochier, Guy ; Taratuto, Ana-Lia...
Acta Neuropathologica Communications. 10 (2022) 1 - p. , 2022

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

10

NGS-driven molecular diagnosis of heterogeneous hereditary ..:

Khan, Ayaz ; Tian, Shixiong ; Tariq, Muhammad...
Molecular Genetics and Genomics. 297 (2022) 6 - p. 1601-1613 , 2022

Link: https://doi.org/10.1007/..

11

Characterization of Loss-Of-Function KCNJ2 Mutations in Aty..:

Le Tanno, Pauline ; Folacci, Mathilde ; Revilloud, Jean...
Frontiers in Genetics. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

12

Role of oculocerebrorenal syndrome of Lowe (OCRL) protein i..:

Egot, Marion ; Lasne, Dominique ; Poirault‐Chassac, Sonia...
British Journal of Haematology. 192 (2021) 5 - p. 909-921 , 2021

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

13

Second Report of Chronic Granulomatous Disease in Jordan: C..:

Bakri, Faris Ghalib ; Mollin, Michelle ; Beaumel, Sylvain...
Frontiers in Immunology. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

14

A recurrent RYR1 mutation associated with early-onset hypot..:

Biancalana, Valérie ; Rendu, John ; Chaussenot, Annabelle...
Acta Neuropathologica Communications. 9 (2021) 1 - p. , 2021

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

15

Association of fingerprint bodies with rods in a case with ..:

Marguet, Florent ; Rendu, John ; Vanhulle, Catherine...
Neuromuscular Disorders. 30 (2020) 3 - p. 207-212 , 2020

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