Research output per year
Research output per year
Search results
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2020
Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients (European Journal of Human Genetics, (2020), 28, 1, (64-75), 10.1038/s41431-019-0374-9)
Urreizti, R., Mayer, K., Evrony, G. D., Said, E., Castilla-Vallmanya, L., Cody, N. A. L., Plasencia, G., Gelb, B. D., Grinberg, D., Brinkmann, U., Webb, B. D. & Balcells, S., 1 Jan 2020, In: European Journal of Human Genetics. 28, 1, p. 138 1 p.Research output: Contribution to journal › Comment/debate
Open Access -
2018
Erratum: Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome (The American Journal of Human Genetics (2017) 101(2) (239–254) (S0002929717302835) (10.1016/j.ajhg.2017.07.005))
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., Boddaert, 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, 5 Apr 2018, In: American Journal of Human Genetics. 102, 4, p. 713 1 p.Research output: Contribution to journal › Comment/debate
Open Access7 Scopus citations