A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

অনুরূপ উপাদানগুলি

• Characterization of X Chromosome Inactivation Using Integrated Analysis of Whole-Exome and mRNA Sequencing
  অনুযায়ী: Szelinger, Szabolcs, অন্যান্য
  প্রকাশিত: (2014)
• Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities
  অনুযায়ী: Narayanan, Mohan, অন্যান্য
  প্রকাশিত: (2015)
• A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia
  অনুযায়ী: Moskowitz, Abby M., অন্যান্য
  প্রকাশিত: (2016)
• Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability [version 1; referees: 2 approved]
  অনুযায়ী: Erika Banuelos, অন্যান্য
  প্রকাশিত: (2017-04-01)
• Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability
  অনুযায়ী: Banuelos, Erika, অন্যান্য
  প্রকাশিত: (2017)