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S Munro

Showing results (281-290 of 335) with videos related to

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Human Molecular Genetics|June 17, 1999
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated familiesE Maestrini, B P Korge, J Ocaña-Sierra, et al.
The Journal of Investigative Dermatology|December 20, 2000
Mutant loricrin is not crosslinked into the cornified cell envelope but is translocated into the nucleus in loricrin keratodermaA Ishida-Yamamoto, H Kato, H Kiyama, et al.
Nature Genetics|December 1, 1995
A mutation in the mucosal keratin K4 is associated with oral white sponge nevusE L Rugg, W H McLean, W E Allison, et al.
The British Journal of Dermatology|October 10, 1998
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2S P Covello, F J Smith, J H Sillevis Smitt, et al.
The British Journal of Dermatology|June 30, 2009
Mutation in DSG1 causing autosomal dominant striate palmoplantar keratodermaM Zamiri, F J D Smith, L E Campbell, et al.
The British Journal of Dermatology|December 22, 1999
Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1F J Smith, M Del Monaco, P M Steijlen, et al.
The Journal of Investigative Dermatology|February 14, 2002
Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 geneCarol Dobson-Stone, Rebecca Fairclough, Eimear Dunne, et al.
The Journal of Investigative Dermatology|November 7, 2008
Heterozygous null alleles in filaggrin contribute to clinical dry skin in young adults and the elderlyAnn Sergeant, Linda E Campbell, Peter R Hull, et al.
Genomics|November 15, 1994
Linkage analyses in British pedigrees suggest a single locus for Darier disease and narrow the location to the interval between D12S105 and D12S129S A Carter, S D Bryce, C S Munro, et al.
Oncogene|January 19, 2006
A functionally distinct member of the DP family of E2F subunitsA Milton, K Luoto, L Ingram, et al.
Pageof 34

Showing results (281-290 of 335) with videos related to

Sort By:
Pageof 34
Human Molecular Genetics|June 17, 1999
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated familiesE Maestrini, B P Korge, J Ocaña-Sierra, et al.
The Journal of Investigative Dermatology|December 20, 2000
Mutant loricrin is not crosslinked into the cornified cell envelope but is translocated into the nucleus in loricrin keratodermaA Ishida-Yamamoto, H Kato, H Kiyama, et al.
Nature Genetics|December 1, 1995
A mutation in the mucosal keratin K4 is associated with oral white sponge nevusE L Rugg, W H McLean, W E Allison, et al.
The British Journal of Dermatology|October 10, 1998
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2S P Covello, F J Smith, J H Sillevis Smitt, et al.
The British Journal of Dermatology|June 30, 2009
Mutation in DSG1 causing autosomal dominant striate palmoplantar keratodermaM Zamiri, F J D Smith, L E Campbell, et al.
The British Journal of Dermatology|December 22, 1999
Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1F J Smith, M Del Monaco, P M Steijlen, et al.
The Journal of Investigative Dermatology|February 14, 2002
Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 geneCarol Dobson-Stone, Rebecca Fairclough, Eimear Dunne, et al.
The Journal of Investigative Dermatology|November 7, 2008
Heterozygous null alleles in filaggrin contribute to clinical dry skin in young adults and the elderlyAnn Sergeant, Linda E Campbell, Peter R Hull, et al.
Genomics|November 15, 1994
Linkage analyses in British pedigrees suggest a single locus for Darier disease and narrow the location to the interval between D12S105 and D12S129S A Carter, S D Bryce, C S Munro, et al.
Oncogene|January 19, 2006
A functionally distinct member of the DP family of E2F subunitsA Milton, K Luoto, L Ingram, et al.
Pageof 34