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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… Expand
National Institutes of Health

Papers overview

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Review
2018
Review
2018
Genetic diseases are leading causes of childhood mortality. Whole-genome sequencing (WGS) and whole-exome sequencing (WES) are… Expand
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Highly Cited
2016
Highly Cited
2016
Hematopoietic stem cells from patients with sickle cell disease can be edited by CRISPR/Cas9 and maintain the edits in vivo… Expand
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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… Expand
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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… Expand
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Highly Cited
2008
Highly Cited
2008
The abundance and identity of functional variation segregating in natural populations is paramount to dissecting the molecular… Expand
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Review
2006
Review
2006
Cystic fibrosis transmembrane conductance regulator (CFTR), a Cl−-selective ion channel, is a prototypic member of the ATP… Expand
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Highly Cited
2005
Highly Cited
2005
Genomic rearrangements linked to aberrant recombination are associated with cancer and human genetic diseases. Such recombination… Expand
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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… Expand
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Review
2002
Review
2002
  • S. Alper
  • Annual review of physiology
  • 2002
  • Corpus ID: 22212433
Genetic disorders of acid-base transporters involve plasmalemmal and organellar transporters of H(+), HCO3(-), and Cl… Expand
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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… Expand
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