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Weber-Cockayne Syndrome

Known as: EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, Weber Cockayne Type Epidermolysis Bullosa Simplex, Epidermolysis Bullosa Simplex, Cockayne Touraine Type 
 
National Institutes of Health

Papers overview

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Highly Cited
2016
Highly Cited
2016
The vibrational properties of model amorphous materials are studied by combining complete analysis of the vibration modes… Expand
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2012
2012
Results of a numerical investigation of crystalline silicon melting line within the range of pressures from -1 to 3 GPa are… Expand
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Highly Cited
2011
Highly Cited
2011
Autosomal recessive mutations in the cytolinker protein plectin account for the multisystem disorders epidermolysis bullosa… Expand
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2011
2011
CdTe and CdTe-based Cd(1-x)Zn(x)Te (CZT) alloys are important semiconductor compounds that are used in a variety of technologies… Expand
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2008
2008
Editor Superficial acral fibromyxoma is a rare, distinctive soft tissue benign neoplasm that has a predilection to develop on the… Expand
Highly Cited
2003
Highly Cited
2003
Summary Background Epidermolysis bullosa simplex (EBS) is an inherited skin fragility disorder caused by mutations in keratin… Expand
Review
2003
Review
2003
Genetic abnormalities for different subtypes of epidermolysis bullosa (EB) have been described. In dominant simplex type EB… Expand
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2001
2001
Background  A distinctive subtype of epidermolysis bullosa simplex, with the additional feature of mottled pigmentation (EBS–MP… Expand
Highly Cited
1995
Highly Cited
1995
Point mutations in the keratin intermediate filament genes for keratin 5 or keratin 14 are known to cause hereditary skin… Expand
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Highly Cited
1994
Highly Cited
1994
DNA from formalin‐fixed and paraffin‐processed samples from 100 melanocytic lesions (39 malignant melanomas, 18 cases of… Expand