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Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

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JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

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J S Beckmann

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Circulation Research|June 13, 2000

Series of exon-skipping events in the elastic spring region of titin as the structural basis for myofibrillar elastic diversityA Freiburg, K Trombitas, W Hell, et al.

Proceedings of the National Academy of Sciences of the United States of America|September 15, 1999

A homeobox gene, vax2, controls the patterning of the eye dorsoventral axisA M Barbieri, G Lupo, A Bulfone, et al.

Genomics|October 1, 1992

Exclusion of linkage between hypokalemic periodic paralysis (HOKPP) and three candidate lociW L Casley, M Allon, H K Cousin, et al.

American Journal of Human Genetics|December 5, 1998

Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31H Feit, A Silbergleit, L B Schneider, et al.

The Journal of Cell Biology|January 3, 2001

Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in miceI Richard, C Roudaut, S Marchand, et al.

Nature Genetics|June 16, 1999

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study GroupJ P Drenth, L Cuisset, G Grateau, et al.

American Journal of Human Genetics|June 1, 1992

Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5qM C Speer, L H Yamaoka, J H Gilchrist, et al.

American Journal of Human Genetics|September 16, 1999

Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44L Cuisset, J P Drenth, J M Berthelot, et al.

Annals of Neurology|December 1, 1991

Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel geneG C Ebers, A L George, R L Barchi, et al.

Annals of Neurology|February 16, 1999

Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10qJ J Poza, A Sáenz, A Martínez-Gil, et al.

Pageof 17

Search research articles

Showing results (131-140 of 165) with videos related to

Sort By:

Pageof 17

Circulation Research|June 13, 2000

Series of exon-skipping events in the elastic spring region of titin as the structural basis for myofibrillar elastic diversityA Freiburg, K Trombitas, W Hell, et al.

Proceedings of the National Academy of Sciences of the United States of America|September 15, 1999

A homeobox gene, vax2, controls the patterning of the eye dorsoventral axisA M Barbieri, G Lupo, A Bulfone, et al.

Genomics|October 1, 1992

Exclusion of linkage between hypokalemic periodic paralysis (HOKPP) and three candidate lociW L Casley, M Allon, H K Cousin, et al.

American Journal of Human Genetics|December 5, 1998

Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31H Feit, A Silbergleit, L B Schneider, et al.

The Journal of Cell Biology|January 3, 2001

Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in miceI Richard, C Roudaut, S Marchand, et al.

Nature Genetics|June 16, 1999

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study GroupJ P Drenth, L Cuisset, G Grateau, et al.

American Journal of Human Genetics|June 1, 1992

Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5qM C Speer, L H Yamaoka, J H Gilchrist, et al.

American Journal of Human Genetics|September 16, 1999

Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44L Cuisset, J P Drenth, J M Berthelot, et al.

Annals of Neurology|December 1, 1991

Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel geneG C Ebers, A L George, R L Barchi, et al.

Annals of Neurology|February 16, 1999

Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10qJ J Poza, A Sáenz, A Martínez-Gil, et al.

Pageof 17