Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

55 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
[Prader Willi syndrome patients: study of 77 patients].
Poyatos D, Camprubí C, Gabau E, Nosas R, Villatoro S, Coll MD, Guitart M. Poyatos D, et al. Among authors: gabau e. Med Clin (Barc). 2009 Nov 7;133(17):649-56. doi: 10.1016/j.medcli.2009.04.051. Epub 2009 Sep 13. Med Clin (Barc). 2009. PMID: 19748638 Spanish.
MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).
Maortua H, Martínez-Bouzas C, García-Ribes A, Martínez MJ, Guillen E, Domingo MR, Calvo MT, Guitart M, Gabau E, Botella MP, Gener B, Rubio I, López-Aríztegui MA, Tejada MI. Maortua H, et al. Among authors: gabau e. J Mol Diagn. 2013 Sep;15(5):723-9. doi: 10.1016/j.jmoldx.2013.05.002. Epub 2013 Jun 26. J Mol Diagn. 2013. PMID: 23810759 Free article.
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.
Codina-Solà M, Rodríguez-Santiago B, Homs A, Santoyo J, Rigau M, Aznar-Laín G, Del Campo M, Gener B, Gabau E, Botella MP, Gutiérrez-Arumí A, Antiñolo G, Pérez-Jurado LA, Cuscó I. Codina-Solà M, et al. Among authors: gabau e. Mol Autism. 2015 Apr 15;6:21. doi: 10.1186/s13229-015-0017-0. eCollection 2015. Mol Autism. 2015. PMID: 25969726 Free PMC article.
Paternal transmission of a FMR1 full mutation allele.
Alvarez-Mora MI, Guitart M, Rodriguez-Revenga L, Madrigal I, Gabau E, Milà M. Alvarez-Mora MI, et al. Among authors: gabau e. Am J Med Genet A. 2017 Oct;173(10):2795-2797. doi: 10.1002/ajmg.a.38384. Epub 2017 Aug 16. Am J Med Genet A. 2017. PMID: 28815939
[Phenotype variability in thirteen 16p11.2 deletion patients].
Rodà D, Gabau E, Baena N, Guitart M. Rodà D, et al. Among authors: gabau e. An Pediatr (Engl Ed). 2018 Jul;89(1):62-63. doi: 10.1016/j.anpedi.2017.08.003. Epub 2017 Oct 14. An Pediatr (Engl Ed). 2018. PMID: 29037952 Free article. Spanish. No abstract available.
Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.
Aguilera C, Viñas-Jornet M, Baena N, Gabau E, Fernández C, Capdevila N, Cirkovic S, Sarajlija A, Miskovic M, Radivojevic D, Ruiz A, Guitart M. Aguilera C, et al. Among authors: gabau e. BMC Med Genet. 2017 Nov 21;18(1):137. doi: 10.1186/s12881-017-0500-x. BMC Med Genet. 2017. PMID: 29162042 Free PMC article. Review.
55 results