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Human Mutation
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April 18, 2013
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome
Gillian I Rice, Martin A M Reijns, Stephanie R Coffin, et al.
Nature Genetics
|
April 2, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Gillian I Rice, Yoandris Del Toro Duany, Emma M Jenkinson, et al.
Nature Genetics
|
January 24, 2012
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
Beverley H Anderson, Paul R Kasher, Josephine Mayer, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 3) with videos related to
Sort By:
Page
of 1
Human Mutation
|
April 18, 2013
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome
Gillian I Rice, Martin A M Reijns, Stephanie R Coffin, et al.
Nature Genetics
|
April 2, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Gillian I Rice, Yoandris Del Toro Duany, Emma M Jenkinson, et al.
Nature Genetics
|
January 24, 2012
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
Beverley H Anderson, Paul R Kasher, Josephine Mayer, et al.
Page
of 1