A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors

Những quyển sách tương tự

• Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes
  Bằng: Darvish, Hossein, et al.
  Được phát hành: (2020)
• Identification of a large homozygous VPS13C deletion in a patient with early-onset parkinsonism
  Bằng: Darvish, Hossein, et al.
  Được phát hành: (2018)
• Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia
  Bằng: Darvish, Hossein, et al.
  Được phát hành: (2017)
• Molecular characterization of PRKN structural variations identified through whole‐genome sequencing
  Bằng: Bravo, Paloma, et al.
  Được phát hành: (2018)
• PTRHD1 (C2orf79) mutations lead to autosomal recessive intellectual disability and parkinsonism
  Bằng: Khodadadi, Hamidreza, et al.
  Được phát hành: (2016)