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J S Beckmann

Showing results (141-150 of 165) with videos related to

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Neuromuscular Disorders : NMD|January 5, 2000
A diagnostic fluorescent marker kit for six limb girdle muscular dystrophiesI Richard, N Bourg, S Marchand, et al.
Journal of Medical Genetics|June 23, 2009
Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutationM Sévin, Z Kutalik, S Bergman, et al.
Genomics|December 9, 2000
A first high-density map of 981 biallelic markers on human chromosome 14J L Escary, E Bottius, N Prince, et al.
Human Molecular Genetics|December 1, 1996
A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of IndiaF Piccolo, M Jeanpierre, F Leturcq, et al.
Brain : a Journal of Neurology|October 8, 1998
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain)M Urtasun, A Sáenz, C Roudaut, et al.
Human Molecular Genetics|April 10, 1999
Dysferlin is a plasma membrane protein and is expressed early in human developmentL V Anderson, K Davison, J A Moss, et al.
Neuromuscular Disorders : NMD|May 5, 1998
Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolateF Duclos, O Broux, N Bourg, et al.
Muscle & Nerve|October 15, 1998
Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese familiesH Kawai, M Akaike, M Kunishige, et al.
Nature Medicine|May 6, 1999
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2AS Baghdiguian, M Martin, I Richard, et al.
Nature Genetics|September 10, 1998
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2BR Bashir, S Britton, T Strachan, et al.
Pageof 17

Showing results (141-150 of 165) with videos related to

Sort By:
Pageof 17
Neuromuscular Disorders : NMD|January 5, 2000
A diagnostic fluorescent marker kit for six limb girdle muscular dystrophiesI Richard, N Bourg, S Marchand, et al.
Journal of Medical Genetics|June 23, 2009
Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutationM Sévin, Z Kutalik, S Bergman, et al.
Genomics|December 9, 2000
A first high-density map of 981 biallelic markers on human chromosome 14J L Escary, E Bottius, N Prince, et al.
Human Molecular Genetics|December 1, 1996
A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of IndiaF Piccolo, M Jeanpierre, F Leturcq, et al.
Brain : a Journal of Neurology|October 8, 1998
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain)M Urtasun, A Sáenz, C Roudaut, et al.
Human Molecular Genetics|April 10, 1999
Dysferlin is a plasma membrane protein and is expressed early in human developmentL V Anderson, K Davison, J A Moss, et al.
Neuromuscular Disorders : NMD|May 5, 1998
Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolateF Duclos, O Broux, N Bourg, et al.
Muscle & Nerve|October 15, 1998
Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese familiesH Kawai, M Akaike, M Kunishige, et al.
Nature Medicine|May 6, 1999
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2AS Baghdiguian, M Martin, I Richard, et al.
Nature Genetics|September 10, 1998
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2BR Bashir, S Britton, T Strachan, et al.
Pageof 17