Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy

por Hardy, Steven A., Blakely, Emma L., Purvis, Andrew I., Rocha, Mariana C., Ahmed, Syeda, Falkous, Gavin, Poulton, Joanna, Rose, Michael R., O'Mahony, Olivia, Bermingham, Niamh, Dougan, Charlotte F., Ng, Yi Shiau, Horvath, Rita, Turnbull, Doug M., Gorman, Grainne S., Taylor, Robert W.
Publicado 2016

Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing

por Hocking, Lynne J., Andrews, Claire, Armstrong, Christine, Ansari, Morad, Baty, David, Berg, Jonathan, Bradley, Therese, Clark, Caroline, Diamond, Austin, Doherty, Jill, Lampe, Anne, McGowan, Ruth, Moore, David J., O’Sullivan, Dawn, Purvis, Andrew, Santoyo-Lopez, Javier, Westwood, Paul, Abbott, Michael, Williams, Nicola, Aitman, Timothy J., Miedzybrodzka, Zosia
Publicado 2022