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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1994 1
1995 1
1996 1
2001 1
2002 1
2003 3
2004 1
2005 3
2006 3
2007 3
2008 2
2009 3
2011 2
2013 1
2017 2
2018 1
2019 4
2020 1
2021 1
2024 1
2025 1

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

36 results

Results by year

Filters applied: . Clear all
Page 1
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A, Roca I, Díaz-Flores F, Cantarín V, Pérez-Poyato MS, Fontalba A, Laranjeira F, Quintans S, Moldovan O, Felgueroso B, Rodríguez-Pedreira M, Simón R, Camacho A, Quijada P, Ibanez-Mico S, Domingno MR, Benito C, Calvo R, Pérez-Cejas A, Carrasco ML, Ramos F, Couce ML, Ruiz-Falcó ML, Gutierrez-Solana L, Martínez-Atienza M. Fernández-Marmiesse A, et al. Among authors: fontalba a. Front Neurosci. 2019 Nov 8;13:1135. doi: 10.3389/fnins.2019.01135. eCollection 2019. Front Neurosci. 2019. PMID: 31780880 Free PMC article.
Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations.
Domínguez F, Cuenca S, Bilińska Z, Toro R, Villard E, Barriales-Villa R, Ochoa JP, Asselbergs F, Sammani A, Franaszczyk M, Akhtar M, Coronado-Albi MJ, Rangel-Sousa D, Rodriguez-Palomares JF, Jiménez-Jáimez J, Garcia-Pinilla JM, Ripoll-Vera T, Mogollón-Jiménez MV, Fontalba-Romero A, Garcia-Medina D, Palomino-Doza J, de Gonzalo-Calvo D, Cicerchia M, Salazar-Mendiguchia J, Salas C, Pankuweit S, Hey TM, Mogensen J, Barton PJ, Charron P, Elliott P, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. Domínguez F, et al. J Am Coll Cardiol. 2018 Nov 13;72(20):2471-2481. doi: 10.1016/j.jacc.2018.08.2181. J Am Coll Cardiol. 2018. PMID: 30442290 Free PMC article.
Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report.
Fernández-Marmiesse A, Pérez-Poyato MS, Fontalba A, Marco de Lucas E, Martínez MT, Cabero Pérez MJ, Couce ML. Fernández-Marmiesse A, et al. Among authors: fontalba a. BMC Med Genet. 2019 Jun 24;20(1):112. doi: 10.1186/s12881-019-0844-5. BMC Med Genet. 2019. PMID: 31234783 Free PMC article.
Radixin modulates the function of outer hair cell stereocilia.
Prasad S, Vona B, Diñeiro M, Costales M, González-Aguado R, Fontalba A, Diego-Pérez C, Subasioglu A, Bademci G, Tekin M, Cabanillas R, Cadiñanos J, Fridberger A. Prasad S, et al. Among authors: fontalba a. Commun Biol. 2020 Dec 23;3(1):792. doi: 10.1038/s42003-020-01506-y. Commun Biol. 2020. PMID: 33361775 Free PMC article.
36 results