X-Linked Dyskeratosis Congenita

Known as: X-Linked Dyskeratosis Congenitas, DYSKERATOSIS CONGENITA, X-LINKED, Dyskeratosis Congenita, X Linked 
Dyskeratosis congenita inherited in an X-linked recessive pattern. It is caused by mutations in the DKC1 gene.
National Institutes of Health

Papers overview

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2012
2012
X-linked dyskeratosis congenita (X-DC) is caused by mutations in the housekeeping nucleolar protein dyskerin. Amino acid changes… (More)
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Highly Cited
2008
Highly Cited
2008
Because traditional electric power distribution systems have been designed assuming the primary substation is the sole source of… (More)
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Highly Cited
2008
Highly Cited
2008
  • LORI BEAMAN RAGHABENDRA CHATTOPADHYAY ESTHER DUFLO ROHI TOPALOVA
  • 2008
We exploit random assignment of gender quotas across Indian village councils to investigate whether having a female chief… (More)
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Review
2008
Review
2008
Laboratoire de Génie Enzymatique et Biomoléculaire, Institut de Chimie et Biochimie Moléculaires et Supramoléculaires, 43… (More)
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Highly Cited
2007
Highly Cited
2007
The development of microwave breast cancer detection and treatment techniques has been driven by reports of substantial contrast… (More)
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2005
2005
Dyskeratosis congenita (DC) is a rare inherited multisystem disorder characterized by the triad of abnormal skin pigmentation… (More)
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Highly Cited
2004
Highly Cited
2004
This paper provides a set of results on the econometric identifiability of binary choice models with social interactions. Our… (More)
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2003
2003
We report the case of a 40-year-old male patient with dyskeratosis congenita(DKC). Sequencing of the DKC1 gene revealed an… (More)
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Review
2003
Review
2003
Hoyeraal-Hreidarsson syndrome represents a severe variant of dyskeratosis congenita (Zinsser-Cole-Engman syndrome). This X-linked… (More)
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Highly Cited
1973
Highly Cited
1973
The electrical properties of the epidermal stratum corneum were investigated by cellulose adhesive tape stripping. The… (More)
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