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Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant.
Rev Esp Cardiol (Engl Ed). 2022 Mar;75(3):242-250. doi: 10.1016/j.rec.2021.01.001. Epub 2021 Feb 26.
Rev Esp Cardiol (Engl Ed). 2022.
PMID: 33642254
English, Spanish.
Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes.
Justino A, Dias P, João Pina M, Sousa S, Cirnes L, Berta Sousa A, Carlos Machado J, Costa JL.
Justino A, et al. Among authors: berta sousa a.
Eur J Hum Genet. 2015 Mar;23(3):347-53. doi: 10.1038/ejhg.2014.97. Epub 2014 Jun 4.
Eur J Hum Genet. 2015.
PMID: 24896146
Free PMC article.
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Face-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia.
Costa S, Sampaio L, Berta Sousa A, Xing C, Agarwal AK, Garg A.
Costa S, et al. Among authors: berta sousa a.
J Clin Endocrinol Metab. 2022 Aug 18;107(9):2433-2438. doi: 10.1210/clinem/dgac406.
J Clin Endocrinol Metab. 2022.
PMID: 35857714
Free PMC article.
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