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Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience.
Genes (Basel). 2023 Mar 22;14(3):772. doi: 10.3390/genes14030772.
Genes (Basel). 2023.
PMID: 36981042
Free PMC article.
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.
Esteve-Garcia A, Cobos E, Sau C, Padró-Miquel A, Català-Mora J, Barberán-Martínez P, Millán JM, García-García G, Aguilera C.
Esteve-Garcia A, et al.
Front Genet. 2024 Feb 21;15:1352063. doi: 10.3389/fgene.2024.1352063. eCollection 2024.
Front Genet. 2024.
PMID: 38450199
Free PMC article.
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Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?
Aguilera C, Esteve-Garcia A, Casasnovas C, Vélez-Santamaria V, Rausell L, Gargallo P, Garcia-Planells J, Alía P, Llecha N, Padró-Miquel A.
Aguilera C, et al. Among authors: esteve garcia a.
BMC Med Genomics. 2023 Dec 1;16(1):312. doi: 10.1186/s12920-023-01743-0.
BMC Med Genomics. 2023.
PMID: 38041144
Free PMC article.
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