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4 Hits
Search Condition : Filter (MeSH = Eye Abnormalities / pathology)
Species
Resource
RRC ID
Title
Journal
Published
Link
C.elegans
tm4314
53537
Accelerating Gene Discovery by Phenotyping Whole-Genome Sequenced Multi-mutation Strains and Using the Sequence Kernel Association Test (SKAT).
PLoS Genet
2016-8-1
Pubmed
Full text
C.elegans
tm1830
,
tm324
,
tm925
,
tm2322
,
tm3100
53444
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
Genome Biol
2015-12-29
Pubmed
Full text
C.elegans
tm2322
,
tm324
,
tm3100
,
tm2452
,
tm925
45941
Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.
PLoS Genet
2013-1-1
Pubmed
Full text
Rats
KFRS4/Kyo(strainID=919)
27745
Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation.
Dis Model Mech
2012-11-1
Pubmed
Full text