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Hayhurst, H, de Coo, IFM, Piekutowska-Abramczuk, D, Alston, CL, Sharma, S, Thompson, K, Rius, R, He, L, Hopton, S, Ploski, R, et al.
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis..
Ann Clin Transl Neurol
6(3)
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515 -524
2019
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Rius, R, Riley, LG, Guo, Y, Menezes, M, Compton, AG, Van Bergen, NJ, Gayevskiy, V, Cowley, MJ, Cummings, BB, Adams, L, et al.
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child..
Mol Genet Metab
126(1)
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77 -82
2019
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González-Del Angel, A, Rius, R, Alcántara-Ortigoza, MA, Spector, E, Del Castillo, V, Mata-García, LE.
Further delineation of achondroplasia-hypochondroplasia complex with long-term survival..
Am J Med Genet A
176(5)
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1225 -1231
2018
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Rius, R, González-Del Angel, A, Velázquez-Aragón, JA, Cordero-Guzmán, LM, Muñoz-Hernández, SE, Alcántara-Ortigoza, MA.
Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family..
Neurol India
66(4)
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1162 -1165
2018
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Sousa, R, Gonçalves, C, Guerra, IC, Costa, E, Fernandes, A, do Bom Sucesso, M, Azevedo, J, Rodriguez, A, Rius, R, Seabra, C, et al.
Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis..
Orphanet J Rare Dis
11(1)
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102
2016
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