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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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2016
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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2011
2011
Autosomal recessive mutations in the cytolinker protein plectin account for the multisystem disorders epidermolysis bullosa… Expand
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2011
2011
In this issue, Israeli and colleagues confirm that homozygous mutations in corneodesmosin (CDSN) cause type B peeling skin… 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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Highly Cited
2003
Highly Cited
2003
BACKGROUND Epidermolysis bullosa simplex (EBS) is an inherited skin fragility disorder caused by mutations in keratin… 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
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1995
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
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