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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… 
National Institutes of Health

Papers overview

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Review
2017
Review
2017
Provision of a molecularly confirmed diagnosis in a timely manner for children and adults with rare genetic diseases shortens… 
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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… 
Highly Cited
2014
Highly Cited
2014
Invertebrate model systems are powerful tools for studying human disease owing to their genetic tractability and ease of… 
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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… 
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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… 
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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… 
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Review
2004
Review
2004
In 1993, several groups, working independently, reported the successful generation of transgenic mice with yeast artificial… 
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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… 
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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… 
Highly Cited
1987
Highly Cited
1987
In this study, we questioned whether in vivo probucol could prevent the progression of atherosclerosis in homozygous Watanabe… 
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