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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. Among authors: garrabou g. 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.
The effects of sepsis on mitochondria.
Garrabou G, Morén C, López S, Tobías E, Cardellach F, Miró O, Casademont J. Garrabou G, et al. J Infect Dis. 2012 Feb 1;205(3):392-400. doi: 10.1093/infdis/jir764. Epub 2011 Dec 16. J Infect Dis. 2012. PMID: 22180620
Mitochondrial disturbances in HIV pregnancies.
Morén C, Noguera-Julián A, Garrabou G, Rovira N, Catalán M, Bañó M, Guitart-Mampel M, Tobías E, Hernández S, Cardellach F, Miró Ò, Fortuny C. Morén C, et al. Among authors: garrabou g. AIDS. 2015 Jan 2;29(1):5-12. doi: 10.1097/QAD.0000000000000486. AIDS. 2015. PMID: 25268887
Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy.
Cámara Y, Carreño-Gago L, Martín MA, Melià MJ, Blázquez A, Delmiro A, Garrabou G, Morén C, Díaz-Manera J, Gallardo E, Bornstein B, López-Gallardo E, Hernández-Lain A, San Millán B, Cancho E, Rodríguez-Vico JS, Martí R, García-Arumí E. Cámara Y, et al. Among authors: garrabou g. Neurology. 2015 Jun 2;84(22):2286-8. doi: 10.1212/WNL.0000000000001644. Epub 2015 May 6. Neurology. 2015. PMID: 25948719 No abstract available.
116 results