Associated Papers
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene.
Stembalska A et al.
Genes, 2022
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis.
Butterfield RJ et al.
Neurology, 2014
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