A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report

Những quyển sách tương tự

• A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report
  Bằng: Santoro, Claudia, et al.
  Được phát hành: (2020)
• Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders
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  Được phát hành: (2019)
• The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene
  Bằng: Torella, Annalaura, et al.
  Được phát hành: (2020)
• Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.
  Bằng: Claudia Santoro, et al.
  Được phát hành: (2018-01-01)
• Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1
  Bằng: Santoro, Claudia, et al.
  Được phát hành: (2018)