Rank | Title | Journal | Year | PubWeight™‹?› |
---|---|---|---|---|
1 | A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. | J Hum Genet | 2017 | 1.07 |
2 | Phenotypic Heterogeneity of the m.14459G>A Mutation. | Child Neurol Open | 2017 | 0.75 |
3 | Correction to: Contribution of the MRPS22 variant and a Down mosaic to the phenotype. | Metab Brain Dis | 2017 | 0.75 |
4 | Traumatic brain injury is unlikely precipitating Leigh syndrome due to the GJB2 mutation c.35delG. | Emerg (Tehran) | 2017 | 0.75 |
5 | Phenotypic and genotypic features in pediatric and adult mitochondrial disorders. | Muscle Nerve | 2017 | 0.75 |
6 | The cerebellum is a common site of affection in Leigh syndrome. | Metab Brain Dis | 2017 | 0.75 |