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2022 | 1 |
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CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.
J Inherit Metab Dis. 2023 Nov;46(6):1029-1042. doi: 10.1002/jimd.12681. Epub 2023 Oct 3.
J Inherit Metab Dis. 2023.
PMID: 37718653
Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects.
Bujan N, Morén C, García-García FJ, Blázquez A, Carnicer C, Cortés AB, González C, López-Gallardo E, Lozano E, Moliner S, Gort L, Tobías E, Delmiro A, Martin MÁ, Fernández-Moreno MÁ, Ruiz-Pesini E, Garcia-Arumí E, Rodríguez-Aguilera JC, Garrabou G.
Bujan N, et al. Among authors: moliner s.
Antioxidants (Basel). 2022 Apr 8;11(4):741. doi: 10.3390/antiox11040741.
Antioxidants (Basel). 2022.
PMID: 35453428
Free PMC article.
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An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families.
Gort L, Quintana E, Moliner S, González-Quereda L, López-Hernández T, Briones P.
Gort L, et al. Among authors: moliner s.
Med Clin (Barc). 2009 May 16;132(18):709-11. doi: 10.1016/j.medcli.2008.11.031. Epub 2009 Apr 16.
Med Clin (Barc). 2009.
PMID: 19375122
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