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Dual proteolytic pathways govern glycolysis and immune competence.
Download from www.ncbi.nlm.nih.govANO10 mutations cause ataxia and coenzyme Q(10) deficiency
Download from link.springer.comFunctionally significant, rare transcription factor variants in tetralogy of Fallot
Download from doi.orgAgrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy
Download from doi.orgTitin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
UploadProminent Sensorimotor Neuropathy Due to SACS Mutations Revealed by Whole-Exome Sequencing
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