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      Abstracts

      research Abstracts

      2 citations, January 2019 in “Medizinische Genetik”
      The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
      The Molecular Basis of Androgen Insensitivity

      research The Molecular Basis of Androgen Insensitivity

      25 citations, January 2000 in “Hormone Research in Paediatrics”
      Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
      The Genetics of Human Skin Disease

      research The Genetics of Human Skin Disease

      24 citations, October 2014 in “Cold Spring Harbor Perspectives in Medicine”
      Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.

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