- Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotypeG Yoon
Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, California 94143 0748, USA
Am J Med Genet A 140:312-21. 2006..Detailed anthropometric, neurological, and cardiac evaluations were performed. Using this approach, we identified novel skeletal and dental findings and proposed additional diagnostic criteria for ATS dysmorphology...
- Andersen-Tawil syndrome: definition of a neurocognitive phenotypeG Yoon
Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco 94158, USA
Neurology 66:1703-10. 2006..It is characterized by periodic paralysis, cardiac arrhythmias, and distinctive features; the effect of KCNJ2 mutations on the CNS has never been studied...
- Association between congenital foot anomalies and gestational age at amniocentesisG Yoon
Department of Medical Genetics, University of Calgary, Canada
Prenat Diagn 21:1137-41. 2001....
- Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficitG Yoon
J Neurol Neurosurg Psychiatry 79:234-6. 2008