Select Publications
Conference Abstracts
2022, 'Novel repeat expansions in PLIN4 in two Spanish families suffering from autosomal dominant distal myopathy with unique pathological features', in NEUROMUSCULAR DISORDERS, PERGAMON-ELSEVIER SCIENCE LTD, Vol. 32, pp. S110 - S110, http://dx.doi.org/10.1016/j.nmd.2022.07.284
,2022, 'Characterising complex rearrangements with long-read sequencing in thalassaemia', in Pathology, Elsevier BV, Vol. 54, pp. S73 - S74, http://dx.doi.org/10.1016/j.pathol.2021.12.242
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