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Cutis laxa, x-linked

Known as: EHLERS-DANLOS SYNDROME, OCCIPITAL HORN TYPE, FORMERLY, Ehlers-Danlos syndrome, occipital horn type (formerly), Cutis laxa X-linked 
 
National Institutes of Health

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Highly Cited
2011
Highly Cited
2011
Background The objective direct and indirect costs of sleep-disordered breathing (snoring, sleep apnoea (SA) and obesity… Expand
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Highly Cited
2007
Highly Cited
2007
BACKGROUND Polysomnography findings between matched groups with obstructive sleep apnea (OSA) and OSA plus obesity… Expand
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Review
2004
Review
2004
Sleep and sleep disorders are different in several important ways between men and women. Because of pregnancy and menopause… Expand
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Highly Cited
2003
Highly Cited
2003
The relationship between the structural characteristics of 29 flavonoids and their antiradical activity was studied. The obtained… Expand
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Highly Cited
2003
Highly Cited
2003
STUDY OBJECTIVES To describe a 7-year follow-up (1992 to 2000) of patients who were treated by home nasal positive-pressure… Expand
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Highly Cited
2000
Highly Cited
2000
More than 150 point mutations have now been identified in the ATP7A gene. Most of these mutations lead to the classic form of… Expand
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Review
1998
Review
1998
  • S. Kaler
  • Pediatric and developmental pathology : the…
  • 1998
  • Corpus ID: 2786287
ABSTRACT Menkes disease and occipital horn syndrome (OHS) are related disorders of copper transport that involve abnormal… Expand
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Highly Cited
1997
Highly Cited
1997
Menkes' disease (MD) and occipital horn syndrome (OHS) are allelic X-linked disorders caused by mutations in the copper ion… Expand
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Highly Cited
1995
Highly Cited
1995
The connective-tissue disorder occipital horn syndrome (OHS) is hypothesized to be allelic to Menkes disease. The two diseases… Expand
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Highly Cited
1994
Highly Cited
1994
We have found mutations in the Menkes disease gene (MNK) which impair, but do not abolish, correct mRNA splicing in patients with… Expand
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