Tara Richman

Search results

• 2019

  Biallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and Leigh syndrome

  Lake, N. J., Webb, B. D., Stroud, D. A., Richman, T. R., Ruzzenente, B., Compton, A. G., Mountford, H. S., Pulman, J., Zangarelli, C., Rio, M., Bodaert, N., Assouline, Z., Sherpa, M. D., Schadt, E. E., Houten, S. M., Byrnes, J., McCormick, E. M., Zolkipli-Cunningham, Z., Haude, K. & Zhang, Z. & 11 others, Retterer, K., Bai, R., Calvo, S. E., Mootha, V. K., Christodoulou, J., Rotig, A., Filipovska, A., Cristian, I., Falk, M. J., Metodiev, M. D. & Thorburn, D. R., Jul 2019, In: European Journal of Human Genetics. 27, p. 860-861 2 p.

  Research output: Contribution to journal › Abstract/Meeting Abstract › peer-review