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Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.
J Med Genet. 2023 Jun;60(6):615-619. doi: 10.1136/jmg-2022-108828. Epub 2022 Dec 19.
J Med Genet. 2023.
PMID: 36535754
Free PMC article.
Neuronal ceroid lipofuscinosis and Bardet-Biedl syndrome in patient with retinitis pigmentosa.
Santotoribio JD, Lepe-Balsalobre E, Alonso-Pérez I, Campo-Barasoain A, Macher HC.
Santotoribio JD, et al. Among authors: campo barasoain a.
An Pediatr (Engl Ed). 2021 Aug;95(2):116-118. doi: 10.1016/j.anpede.2020.05.017. Epub 2021 Jul 16.
An Pediatr (Engl Ed). 2021.
PMID: 34275779
Free article.
No abstract available.
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