|
1
|
Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.
|
Am J Hum Genet
|
2010
|
0.90
|
|
2
|
Gene expression analysis using single molecule detection.
|
Nucleic Acids Res
|
2003
|
0.85
|
|
3
|
IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies.
|
Biomed Res Int
|
2012
|
0.84
|
|
4
|
Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.
|
Hum Mutat
|
2014
|
0.80
|
|
5
|
IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies-a price comparison with Sanger sequencing.
|
Adv Exp Med Biol
|
2014
|
0.75
|