Grunseich, C., Sarkar, N., Lu, J., Owen, M., Schindler, A., Calabresi, P. A., Sumner, C. J., Roda, R. H., Chaudhry, V., Lloyd, T. E., Crawford, T. O., Subramony, S. H., Oh, S. J., Richardson, P., Tanji, K., Kwan, J. Y., Fischbeck, K. H., & Mankodi, A. (2021). Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases. Journal of Neurology, Neurosurgery & Psychiatry, 92(11), 1186–1196. https://doi.org/10.1136/jnnp-2020-325437
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10.1136/jnnp-2020-325437
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Scopus
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