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Page 1
The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call.
Genes (Basel). 2021 Oct 9;12(10):1590. doi: 10.3390/genes12101590.
Genes (Basel). 2021.
PMID: 34680984
Free PMC article.
[Cerebral palsy: new challenges in the era of rare diseases].
Aguilera Albesa S, Nova Díaz DM, Aznal Sáinz E.
Aguilera Albesa S, et al. Among authors: aznal sainz e.
An Sist Sanit Navar. 2023 Apr 29;46(1):e1038. doi: 10.23938/ASSN.1038.
An Sist Sanit Navar. 2023.
PMID: 37166237
Free PMC article.
Spanish.
No abstract available.
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Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
Guasto A, Dubail J, Aguilera-Albesa S, Paganini C, Vanhulle C, Haouari W, Gorría-Redondo N, Aznal-Sainz E, Boddaert N, Planas-Serra L, Schlüter A, Vélez-Santamaría V, Verdura E, Bruneel A, Rossi A, Huber C, Pujol A, Cormier-Daire V.
Guasto A, et al. Among authors: aznal sainz e.
Brain. 2022 Oct 21;145(10):3711-3722. doi: 10.1093/brain/awac110.
Brain. 2022.
PMID: 35325049
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Autoimmune pancreatitis: A diagnostic and therapeutic challenge.
Peñafiel-Freire DM, Montes Díaz M, Aznal Sáinz E.
Peñafiel-Freire DM, et al. Among authors: aznal sainz e.
An Pediatr (Engl Ed). 2024 Apr;100(4):309-310. doi: 10.1016/j.anpede.2024.03.046. Epub 2024 Mar 29.
An Pediatr (Engl Ed). 2024.
PMID: 38555191
Free article.
No abstract available.
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