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Ophthalmological Manifestations of Hereditary Myopathies.
Saint-Gerons M, Rubio MA, Aznar G, Matheu A. Saint-Gerons M, et al. Among authors: aznar g. J Binocul Vis Ocul Motil. 2022 Jan-Mar;72(1):4-17. Epub 2022 Jan 20. J Binocul Vis Ocul Motil. 2022. PMID: 35049410 Review.
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.