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Reviewed and updated Algorithm for Genetic Characterization of Syndromic Obesity Phenotypes.
Curr Genomics. 2022 Jul 5;23(3):147-162. doi: 10.2174/1389202923666220426093436.
Curr Genomics. 2022.
PMID: 36777005
Free PMC article.
Review.
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 banacloy a.
Life (Basel). 2022 Jul 12;12(7):1035. doi: 10.3390/life12071035.
Life (Basel). 2022.
PMID: 35888124
Free PMC article.
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Genetic screening for MC4R gene identifies three novel mutations associated with severe familiar obesity in a cohort of Spanish individuals.
Gimeno-Ferrer F, Albuquerque D, García Banacloy A, Guzmán Luján C, Vidal Garcia C, Marcaida Benito G, Sánchez Juan C, Bruna Esteban M, Rodríguez-López R.
Gimeno-Ferrer F, et al. Among authors: garcia banacloy a.
Gene. 2019 Jul 1;704:74-79. doi: 10.1016/j.gene.2019.04.018. Epub 2019 Apr 11.
Gene. 2019.
PMID: 30981838
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