Genetic Diseases, X-Linked

Known as: Genetic Diseases, X-Linked [Disease/Finding], X-Linked Genetic Disease, Genetic Diseases, X Chromosome Linked 
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included… (More)
National Institutes of Health

Papers overview

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Highly Cited
2014
Highly Cited
2014
Invertebrate model systems are powerful tools for studying human disease owing to their genetic tractability and ease of… (More)
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2014
2014
The mechanisms by which gene expression is regulated by oxygen are of considerable interest from basic science and therapeutic… (More)
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Highly Cited
2012
Highly Cited
2012
Accurate identification of sparse heterozygous single-nucleotide variants (SNVs) is a critical challenge for identifying the… (More)
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Highly Cited
2008
Highly Cited
2008
Several thousand genes in the human genome have been linked to a heritable genetic disease. The majority of these appear to be… (More)
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Highly Cited
2003
Highly Cited
2003
In Fig.2 the nucleotide coordinates on the left above the sequence alignment blocks are wrong: 1, 88, 188, 278, 387, and 485… (More)
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2003
2003
Genetic diseases that affect tooth enamel are grouped under the classification amelogenesis imperfecta. Human pedigrees and… (More)
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Highly Cited
2003
Highly Cited
2003
CONTEXT "Cystic degeneration" of the kidneys was first described pathologically in 1841 and "polycystic kidneys" as a clinical… (More)
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Review
2002
Review
2002
Genetic disorders of acid-base transporters involve plasmalemmal and organellar transporters of H(+), HCO3(-), and Cl… (More)
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Highly Cited
2002
Highly Cited
2002
Although many human genes have been associated with genetic diseases, knowing which mutations result in disease phenotypes often… (More)
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Highly Cited
1987
Highly Cited
1987
In this study, we questioned whether in vivo probucol could prevent the progression of atherosclerosis in homozygous Watanabe… (More)
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