Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults
Longitudinal white matter and cognitive development in pediatric carriers of the apolipoprotein ε4 allele
Apparently benign craniocervical signs in achondroplasia: “neurologic leftovers” identified through a retrospective dataset
Human iPSC Modeling Reveals Mutation-Specific Responses to Gene Therapy in a Genotypically Diverse Dominant Maculopathy
ManiNetCluster: a novel manifold learning approach to reveal the functional links between gene networks.
