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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 sequencing
Juliette 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 Myopathies
Rainiero 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 registry
Benoît 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 development
Julia 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 penetrance
Laurène 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 Disorganization
Gina 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 myopathy
Maureen Jacob, Heike Kölbel, Philip Harrer, et al.
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of 7
Search research articles
Search
Showing results (61-70 of 67) with videos related to
Sort By:
Page
of 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 sequencing
Juliette 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 Myopathies
Rainiero 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 registry
Benoît 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 development
Julia 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 penetrance
Laurène 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 Disorganization
Gina 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 myopathy
Maureen Jacob, Heike Kölbel, Philip Harrer, et al.
Page
of 7