Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report

समान संसाधन

• Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach
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  द्वारा: Shimojima, Keiko, और अन्य
  प्रकाशित: (2015)
• De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features
  द्वारा: Yamamoto, Toshiyuki, और अन्य
  प्रकाशित: (2013)
• Exome sequencing to identify de novo mutations in sporadic ALS trios
  द्वारा: Chesi, Alessandra, और अन्य
  प्रकाशित: (2013)
• Whole-exome sequencing for finding de novo mutations in sporadic mental retardation
  द्वारा: Robinson, Peter N
  प्रकाशित: (2010)