Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly

פריטים דומים

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  מאת: Imran Naseer, Muhammad, et al.
  יצא לאור: (2021)
• Whole Exome Sequencing Reveals Two Novel Homozygous Variants in the TRAPPC9 and PLOD3 Genes Leading to Intellectual Disability and Bone Fragility with Contractures
  מאת: Angham Abdulrahman Abdulkareem, et al.
  יצא לאור: (2023-08-01)
• Whole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family
  מאת: Naseer, Muhammad Imran, et al.
  יצא לאור: (2020)
• Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family
  מאת: Naseer, Muhammad Imran, et al.
  יצא לאור: (2019)
• A Novel Homozygous Abnormal Splice Variant in the Myoferlin Gene Leading to Floppy Infant Syndrome in a Saudi Family
  מאת: Angham Abdulrahman Abdulkareem, et al.
  יצא לאור: (2023-10-01)