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(2022) GGPS1-associated muscular dystrophy with and without hearing loss. Annals of Clinical and Translational Neurology. pp. 1465-1474.
(2022) <i>GGPS1</i>-associated muscular dystrophy with and without hearing loss. Annals of Clinical and Translational Neurology. pp. 1465-1474. ISSN 2328-9503
(2019) Exome-wide copy number variation analysis identifies a <i>COL9A1</i> in frame deletion that is associated with hearing loss. European journal of medical genetics. p. 7. ISSN 1769-7212