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Year | Number of Results |
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2011 | 1 |
2019 | 1 |
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Page 1
Uncovering genetic causes of hypophosphatemia.
J Intern Med. 2023 Jun;293(6):753-762. doi: 10.1111/joim.13635. Epub 2023 Apr 16.
J Intern Med. 2023.
PMID: 36999651
Review.
New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3.
García-Aznar JM, De la Higuera L, Besada Cerecedo L, Gandiaga NP, Vega AI, Fernández-Fresnedo G, González-Lamuño D.
García-Aznar JM, et al. Among authors: vega ai.
J Clin Med. 2022 Aug 19;11(16):4883. doi: 10.3390/jcm11164883.
J Clin Med. 2022.
PMID: 36013122
Free PMC article.
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Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.
Bravo-Alonso I, Navarrete R, Vega AI, Ruíz-Sala P, García Silva MT, Martín-Hernández E, Quijada-Fraile P, Belanger-Quintana A, Stanescu S, Bueno M, Vitoria I, Toledo L, Couce ML, García-Jiménez I, Ramos-Ruiz R, Martín MÁ, Desviat LR, Ugarte M, Pérez-Cerdá C, Merinero B, Pérez B, Rodríguez-Pombo P.
Bravo-Alonso I, et al. Among authors: vega ai.
J Clin Med. 2019 Nov 1;8(11):1811. doi: 10.3390/jcm8111811.
J Clin Med. 2019.
PMID: 31683770
Free PMC article.
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Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.
Vega AI, Pérez-Cerdá C, Abia D, Gámez A, Briones P, Artuch R, Desviat LR, Ugarte M, Pérez B.
Vega AI, et al.
J Inherit Metab Dis. 2011 Aug;34(4):929-39. doi: 10.1007/s10545-011-9328-2. Epub 2011 May 4.
J Inherit Metab Dis. 2011.
PMID: 21541725
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