|
1
|
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
|
Am J Hum Genet
|
2013
|
1.46
|
|
2
|
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
|
Am J Hum Genet
|
2010
|
1.38
|
|
3
|
Tracking the fate of iron in early development of human blood flukes.
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Int J Biochem Cell Biol
|
2007
|
1.14
|
|
4
|
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
|
Am J Hum Genet
|
2013
|
0.94
|
|
5
|
Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies.
|
Mol Immunol
|
2007
|
0.81
|
|
6
|
A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance.
|
Neuromuscul Disord
|
2010
|
0.81
|
|
7
|
Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.
|
Neuromuscul Disord
|
2012
|
0.79
|
|
8
|
Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.
|
Muscle Nerve
|
2014
|
0.77
|