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Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease.
Estève C, Roman C, DeLeusse C, Baravalle M, Bertaux K, Blanc F, Bourgeois P, Bresson V, Cano A, Coste ME, Delteil C, Lacoste C, Loosveld M, De Paula AM, Monnier AS, Secq V, Levy N, Badens C, Fabre A. Estève C, et al. Among authors: roman c. Eur J Med Genet. 2021 Oct;64(10):104294. doi: 10.1016/j.ejmg.2021.104294. Epub 2021 Aug 3. Eur J Med Genet. 2021. PMID: 34352414
Quality of life of chronically ill children and adolescents: a cross-sectional study.
Perreard P, Castets S, Aouchiche K, Bernoux D, Bruno D, Cailliez M, Clave S, Coste ME, De Leusse C, Duvant P, Garaix F, Gauche L, Marquant E, Roman C, Roquelaure B, Rouvière CR, Vergier J, Tsimaratos M, Berbis J, Fabre A, Reynaud R. Perreard P, et al. Among authors: roman c. Arch Pediatr. 2024 Oct;31(7):439-445. doi: 10.1016/j.arcped.2024.04.007. Epub 2024 Sep 12. Arch Pediatr. 2024. PMID: 39271300
757 results