Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
3 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Face-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia.
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.
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.
Item in Clipboard
Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant.
Lamounier Junior A, Guitián González A, Rodríguez Vilela A, Repáraz Andrade A, Rubio Alcaide Á, Berta Sousa A, Benito López C, Alonso García D, Fernández Ferro G, Cruz I, Cárdenas Reyes IJ, Salazar-Mendiguchía García J, Larrañaga-Moreira JM, Ochoa JP, Palomino-Doza J, de la Higuera Romero L, Nicolás Cicerchia M, Restrepo Córdoba MA, Peña-Peña ML, Noël Brögger M, Loureiro M, Mogollón Jiménez MV, Bilbao Quesada R, Franco Gutiérrez R, García Hernández S, Ripoll-Vera T, Fernández X, Azevedo O, García Pavía P, Lopes LR, Ortiz M, Brito D, Barriales-Villa R, Monserrat Iglesias L.
Lamounier Junior A, et al. Among authors: berta sousa a.
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.
Item in Clipboard
Cite
Cite