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John Rendu
224
results:
Search for persons
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Format
Online (224)
Mediatypes
Articles (Online) (50)
OpenAccess-fulltext (173)
Video (Online) (1)
Languages
english (211)
french (7)
Sorted by: Relevance
Sorted by: Year
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1
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/..
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2
Myopathic manifestations across the adult lifespan of patie..:
Ibarra Moreno, Carlos A.
;
Silva, Helga C.A.
;
Voermans, Nicol C.
...
British Journal of Anaesthesia. , 2024
Link:
https://doi.org/10.1016/..
?
3
P452: Specifying the ACMG/AMP variant sequence interpretati..:
DiStefano, Marina
;
Webb, Ryan
;
McCurry, Hannah
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100499 , 2023
Link:
https://doi.org/10.1016/..
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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/..
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5
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/..
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6
Muscular phenotype description of abnormal THOC2 splicing:
Dubucs, Charlotte
;
Rendu, John
;
Michel-Calemard, Laurence
...
Neuromuscular Disorders. 33 (2023) 12 - p. 978-982 , 2023
Link:
https://doi.org/10.1016/..
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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/..
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8
Objective Evaluation of Clinical Actionability for Genes In..:
Vecten, Maude
;
Pion, Emmanuelle
;
Bartoli, Marc
...
International Journal of Molecular Sciences. 23 (2022) 15 - p. 8506 , 2022
Link:
https://doi.org/10.3390/..
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9
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/..
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10
Congenital Nemaline Myopathy with Dense Protein Masses:
Bevilacqua, Jorge A
;
Malfatti, Edoardo
;
Labasse, Clémence
...
Journal of Neuropathology & Experimental Neurology. 81 (2022) 4 - p. 304-307 , 2022
Link:
https://doi.org/10.1093/..
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11
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/..
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12
Development of Knock-Out Muscle Cell Lines using Lentivirus..
JoVE : Genetics
Beaufils, Mathilde
;
Tourel, Amandine
;
Petiot, Anne
... , 2022
Link:
https://www.jove.com/t/6..
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13
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/..
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14
259th ENMC international workshop: Anaesthesia and neuromus..:
van den Bersselaar, LR
;
Riazi, S
;
Snoeck, MMJ
...
Neuromuscular Disorders. 32 (2022) 1 - p. 86-97 , 2022
Link:
https://doi.org/10.1016/..
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15
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/..
1-15