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John Rendu
224  results:
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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/..
 
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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/..
 
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