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European Journal of Human Genetics : EJHG
|
April 21, 2001
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma
D M Hunt, L Rickman, N V Whittock, et al.
American Journal of Human Genetics
|
March 11, 2000
Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping
S Chavanas, C Garner, C Bodemer, et al.
Plos One
|
September 19, 2015
Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa
Stephen A Watt, Jasbani H S Dayal, Sheila Wright, et al.
The Journal of Investigative Dermatology
|
February 14, 2004
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome
Gabrielle H S Ashton, W H Irwin McLean, Andrew P South, et al.
American Journal of Human Genetics
|
January 24, 2012
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome
Diana C Blaydon, Sarah L Etheridge, Janet M Risk, et al.
Nature Reviews. Genetics
|
August 19, 2021
Opportunities and challenges of macrogenetic studies
Deborah M Leigh, Charles B van Rees, Katie L Millette, et al.
Journal of the American Academy of Dermatology
|
August 16, 2023
Transcriptomic analysis of cutaneous squamous cell carcinoma reveals a multigene prognostic signature associated with metastasis
Jun Wang, Catherine A Harwood, Emma Bailey, et al.
Nature Genetics
|
August 1, 1996
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
F J Smith, R A Eady, I M Leigh, et al.
Oncogene
|
May 24, 2011
Integrative mRNA profiling comparing cultured primary cells with clinical samples reveals PLK1 and C20orf20 as therapeutic targets in cutaneous squamous cell carcinoma
S A Watt, C Pourreyron, K Purdie, et al.
The Journal of Investigative Dermatology
|
March 26, 2014
NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis
Andrew P South, Karin J Purdie, Stephen A Watt, et al.
Page
of 53
Search research articles
Search
Showing results (471-480 of 525) with videos related to
Sort By:
Page
of 53
European Journal of Human Genetics : EJHG
|
April 21, 2001
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma
D M Hunt, L Rickman, N V Whittock, et al.
American Journal of Human Genetics
|
March 11, 2000
Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping
S Chavanas, C Garner, C Bodemer, et al.
Plos One
|
September 19, 2015
Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa
Stephen A Watt, Jasbani H S Dayal, Sheila Wright, et al.
The Journal of Investigative Dermatology
|
February 14, 2004
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome
Gabrielle H S Ashton, W H Irwin McLean, Andrew P South, et al.
American Journal of Human Genetics
|
January 24, 2012
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome
Diana C Blaydon, Sarah L Etheridge, Janet M Risk, et al.
Nature Reviews. Genetics
|
August 19, 2021
Opportunities and challenges of macrogenetic studies
Deborah M Leigh, Charles B van Rees, Katie L Millette, et al.
Journal of the American Academy of Dermatology
|
August 16, 2023
Transcriptomic analysis of cutaneous squamous cell carcinoma reveals a multigene prognostic signature associated with metastasis
Jun Wang, Catherine A Harwood, Emma Bailey, et al.
Nature Genetics
|
August 1, 1996
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
F J Smith, R A Eady, I M Leigh, et al.
Oncogene
|
May 24, 2011
Integrative mRNA profiling comparing cultured primary cells with clinical samples reveals PLK1 and C20orf20 as therapeutic targets in cutaneous squamous cell carcinoma
S A Watt, C Pourreyron, K Purdie, et al.
The Journal of Investigative Dermatology
|
March 26, 2014
NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis
Andrew P South, Karin J Purdie, Stephen A Watt, et al.
Page
of 53