Skip to Main Content

Paper Details

The genetic basis of DOORS syndrome: an exome-sequencing study.
Lancet Neurol
92
2014
DNA samples, DOORS, DOORS syndrome, DOORS) syndrome, Deafness, Participants, TBC1D24, TBC1D24 mRNA, TBC1D24 mutations, Tbc1d24, autosomal recessive disorder, candidate gene, deafness, exons, generalised tonic-clonic, complex partial, focal clonic, and infantile spasms, human, human fibroblasts, intellectual disability, mental retardation, mouse, mouse phalangeal chondrocytes, onychodystrophy, osteodystrophy, participants, seizures, seizures (
Author NameAffiliation
Dalia KasperaviciuteUCL Institute of Neurology
Fiona StewartBelfast City Hospital
H??lya KayseriliIstanbul University
Gabriela M RepettoCenter for Human Genetics, Clinica Alemana-Universidad del Desarrollo
Ariana Kariminejad
Siddharth BankaInstitute of Human Development, University of Manchester, UK St Mary's Hospital
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Sanjay M SisodiyaUCL Institute of Neurology
  • 1 - 9

Datasets

Release 1.2