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2 Article(s) on File
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Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis
Erlich Y,
Edvardson S,
Hodges E,
Zenvirt S,
Thekkat P,
Shaag A,
Dor T,
Hannon GJ,
Elpeleg O

Genome Research
  21 (5): 658-664; May 2011   PMCID: PMC3083082
[Abstract]
[DOI]

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation
Edvardson S,
Shaag A,
Zenvirt S,
Erlich Y,
Hannon GJ,
Shanske AL,
Gomori JM,
Ekstein J,
Elpeleg O

American Journal of Human Genetics
  86 (1): 93-97; Jan 8 2010   PMCID: PMC2801745
[Abstract]
[DOI] [Full Text] [PDF]


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