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D Fuchs-Telem

Showing results (1-10 of 7) with videos related to

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The British Journal of Dermatology|February 22, 2011
An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous familyL Samuelov, D Fuchs-Telem, O Sarig, et al.
Clinical and Experimental Dermatology|February 13, 2013
Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9D Fuchs-Telem, G Padalon-Brauch, O Sarig, et al.
Clinical and Experimental Dermatology|May 14, 2011
Erythrokeratoderma variabilis caused by a recessive mutation in GJB3D Fuchs-Telem, Y Pessach, B Mevorah, et al.
Clinical and Experimental Dermatology|March 19, 2014
New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndromeD Fuchs-Telem, J Nousbeck, A Singer, et al.
Journal of Medical Genetics|September 18, 2007
Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutationA Saada, A Shaag, S Arnon, et al.
Clinical and Experimental Dermatology|April 30, 2013
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli populationS Israeli, I Goldberg, D Fuchs-Telem, et al.
The British Journal of Dermatology|November 16, 2010
CEDNIK syndrome results from loss-of-function mutations in SNAP29D Fuchs-Telem, H Stewart, D Rapaport, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
The British Journal of Dermatology|February 22, 2011
An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous familyL Samuelov, D Fuchs-Telem, O Sarig, et al.
Clinical and Experimental Dermatology|February 13, 2013
Epidermolytic palmoplantar keratoderma caused by activation of a cryptic splice site in KRT9D Fuchs-Telem, G Padalon-Brauch, O Sarig, et al.
Clinical and Experimental Dermatology|May 14, 2011
Erythrokeratoderma variabilis caused by a recessive mutation in GJB3D Fuchs-Telem, Y Pessach, B Mevorah, et al.
Clinical and Experimental Dermatology|March 19, 2014
New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndromeD Fuchs-Telem, J Nousbeck, A Singer, et al.
Journal of Medical Genetics|September 18, 2007
Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutationA Saada, A Shaag, S Arnon, et al.
Clinical and Experimental Dermatology|April 30, 2013
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli populationS Israeli, I Goldberg, D Fuchs-Telem, et al.
The British Journal of Dermatology|November 16, 2010
CEDNIK syndrome results from loss-of-function mutations in SNAP29D Fuchs-Telem, H Stewart, D Rapaport, et al.
Pageof 1