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Juliette Nectoux

Showing results (61-70 of 67) with videos related to

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European Journal of Human Genetics : EJHG|October 30, 2014
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencingJuliette Nectoux, Rafael de Cid, Sylvain Baulande, et al.
Journal of Neuropathology and Experimental Neurology|October 27, 2018
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related MyopathiesRainiero Ávila-Polo, Edoardo Malfatti, Xavière Lornage, et al.
Orphanet Journal of Rare Diseases|September 2, 2025
Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registryBenoît Sanson, Abderhmane Slioui, Jérémy Garcia, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
Mosaic parental germline mutations causing recurrent forms of malformations of cortical developmentJulia Lauer Zillhardt, Karine Poirier, Loïc Broix, et al.
European Journal of Human Genetics : EJHG|December 26, 2024
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetranceLaurène Gérard, Mégane Delourme, Charlotte Tardy, et al.
American Journal of Human Genetics|October 18, 2016
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar DisorganizationGina L O'Grady, Heather A Best, Tamar E Sztal, et al.
Brain : a Journal of Neurology|June 11, 2025
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathyMaureen Jacob, Heike Kölbel, Philip Harrer, et al.
Pageof 7

Showing results (61-70 of 67) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 67 results.
European Journal of Human Genetics : EJHG|October 30, 2014
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencingJuliette Nectoux, Rafael de Cid, Sylvain Baulande, et al.
Journal of Neuropathology and Experimental Neurology|October 27, 2018
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related MyopathiesRainiero Ávila-Polo, Edoardo Malfatti, Xavière Lornage, et al.
Orphanet Journal of Rare Diseases|September 2, 2025
Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registryBenoît Sanson, Abderhmane Slioui, Jérémy Garcia, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
Mosaic parental germline mutations causing recurrent forms of malformations of cortical developmentJulia Lauer Zillhardt, Karine Poirier, Loïc Broix, et al.
European Journal of Human Genetics : EJHG|December 26, 2024
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetranceLaurène Gérard, Mégane Delourme, Charlotte Tardy, et al.
American Journal of Human Genetics|October 18, 2016
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar DisorganizationGina L O'Grady, Heather A Best, Tamar E Sztal, et al.
Brain : a Journal of Neurology|June 11, 2025
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathyMaureen Jacob, Heike Kölbel, Philip Harrer, et al.
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