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Results 1 - 10 of 25 for genetic disorders
  1. ... PubMed Lyon MF. X-chromosome inactivation and human genetic disease. Acta Paediatr Suppl. 2002;91(439):107-12. ...
  2. ... Wolff EM, Liang G, Jones PA. Mechanisms of Disease: genetic and epigenetic alterations that drive bladder cancer. Nat ...
  3. ... Mackay DJ. Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes. Diabetologia. 2010 Nov;53( ...
  4. ... impaired communication and social interaction.All of the genetic changes that underlie FOXP2-related speech and language disorder disrupt the activity of FOXP2, a critical gene ...
  5. ... of certain genes involved in development. This extra genetic material disrupts normal development, causing the characteristic features of this disorder. People with dup15q syndrome caused by an interstitial ...
  6. ... which is also known as 11q terminal deletion disorder, is caused by a deletion of genetic material at the end (terminus) of the long ( ... WAGR syndrome is caused by a deletion of genetic material on the short (p) ... WAGR syndrome is a disorder that affects many body systems and is named ...
  7. ... with the percentage of mitochondria with a particular genetic change.A buildup of somatic mutations in mitochondrial DNA has been associated with an increased risk of certain age-related disorders such as heart disease, Alzheimer's disease, and ...
  8. ... tetra," the Greek word for "four.") The extra genetic material from the isochromosome disrupts the normal course of development, causing intellectual disability, delayed development, and the other characteristic features of this disorder. More About This Health Condition Trisomy 18 occurs ...
  9. ... Health Condition Deletion of a small amount of genetic material (a microdeletion) on chromosome 17 can cause Koolen-de Vries syndrome. This disorder is characterized by developmental delay, intellectual disability, a ...
  10. ... deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. The signs and symptoms of this disorder include intellectual disabilities, distinctive facial features, and structural ...
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