Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type

類似資料

• Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders
  著者:: Haghshenas, Sadegheh, 等
  出版事項: (2020)
• The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance
  著者:: Aref-Eshghi, Erfan, 等
  出版事項: (2017)
• Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C
  著者:: Schenkel, Laila C., 等
  出版事項: (2018)
• Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
  著者:: Sadikovic, Bekim, 等
  出版事項: (2021)
• Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes
  著者:: Aref-Eshghi, Erfan, 等
  出版事項: (2018)