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Homozygous Pro1066Arg MYBPC3 Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous Family.
Rodríguez-López R, García-Planells J, Martínez-Matilla M, Pérez-García C, García Banacloy A, Guzmán Luján C, Zomeño Alcalá O, Belchi Navarro J, Martínez-León J, Salguero-Bodes R. Rodríguez-López R, et al. Among authors: garcia planells j. Life (Basel). 2022 Jul 12;12(7):1035. doi: 10.3390/life12071035. Life (Basel). 2022. PMID: 35888124 Free PMC article.
Earlier relapse detection after allogeneic haematopoietic stem cell transplantation by chimerism assays: Digital PCR versus quantitative real-time PCR of insertion/deletion polymorphisms.
Valero-Garcia J, González-Espinosa MDC, Barrios M, Carmona-Antoñanzas G, García-Planells J, Ruiz-Lafora C, Fuentes-Gálvez A, Jiménez-Velasco A. Valero-Garcia J, et al. Among authors: garcia planells j. PLoS One. 2019 Feb 22;14(2):e0212708. doi: 10.1371/journal.pone.0212708. eCollection 2019. PLoS One. 2019. PMID: 30794643 Free PMC article.
Correction: Earlier relapse detection after allogeneic haematopoietic stem cell transplantation by chimerism assays: Digital PCR versus quantitative real-time PCR of insertion/deletion polymorphisms.
Valero-Garcia J, González-Espinosa MDC, Barrios M, Carmona-Antoñanzas G, García-Planells J, Ruiz-Lafora C, Fuentes-Gálvez A, Jiménez-Velasco A. Valero-Garcia J, et al. Among authors: garcia planells j. PLoS One. 2019 Mar 13;14(3):e0213966. doi: 10.1371/journal.pone.0213966. eCollection 2019. PLoS One. 2019. PMID: 30865717 Free PMC article.
A novel SDHD mutation associated with neck paraganglioma.
Reboll R, Martínez-Leon J, Zapater E, Juez M, Garcia-Planells J, Martinez-Cadenas C, Basterra J. Reboll R, et al. Acta Otolaryngol. 2011 Oct;131(10):1110-6. doi: 10.3109/00016489.2011.587201. Epub 2011 May 30. Acta Otolaryngol. 2011. PMID: 21619495
A novel Col4A1 mutation: recognizing an uncommon cause of stroke.
Portela Sánchez S, Velázquez Pérez JM, Simón Campo P, Guzmán De Villoria JA, García Planells J, García Domínguez JM. Portela Sánchez S, et al. Among authors: garcia planells j. Eur J Neurol. 2020 Dec;27(12):e84-e85. doi: 10.1111/ene.14413. Epub 2020 Jul 31. Eur J Neurol. 2020. PMID: 32562296 No abstract available.
28 results