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 NCBI Filters

Results by year

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

Year Number of Results
1981 2
1991 3
1996 1
1999 3
2000 2
2003 1
2004 3
2005 1
2007 2
2008 5
2009 1
2010 3
2011 3
2012 2
2013 3
2014 3
2015 2
2017 3
2018 2
2019 2
2020 5
2021 8
2022 4
2023 3
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

60 results

Results by year

Filters applied: . Clear all
Page 1
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Rice GI, et al. Among authors: tomas vila m. Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. Hum Mutat. 2020. PMID: 31898846 Free PMC article.
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A, Vélez-Santamaría V, Verdura E, Rodríguez-Palmero A, Ruiz M, Fourcade S, Planas-Serra L, Launay N, Guilera C, Martínez JJ, Homedes-Pedret C, Albertí-Aguiló MA, Zulaika M, Martí I, Troncoso M, Tomás-Vila M, Bullich G, García-Pérez MA, Sobrido-Gómez MJ, López-Laso E, Fons C, Del Toro M, Macaya A; HSP/ataxia workgroup; Beltran S, Gutiérrez-Solana LG, Pérez-Jurado LA, Aguilera-Albesa S, de Munain AL, Casasnovas C, Pujol A. Schlüter A, et al. Among authors: tomas vila m. Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2. Genome Med. 2023. PMID: 37679823 Free PMC article.
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
Martínez-Rubio D, Hinarejos I, Argente-Escrig H, Marco-Marín C, Lozano MA, Gorría-Redondo N, Lupo V, Martí-Carrera I, Miranda C, Vázquez-López M, García-Pérez A, Marco-Hernández AV, Tomás-Vila M, Aguilera-Albesa S, Espinós C. Martínez-Rubio D, et al. Among authors: tomas vila m. Int J Mol Sci. 2023 Nov 16;24(22):16400. doi: 10.3390/ijms242216400. Int J Mol Sci. 2023. PMID: 38003592 Free PMC article.
[HaNDL syndrome in a 12-year-old girl].
Gabaldon-Albero A, Bernad-Mecho D, Alemany-Albert M, Villalba-Perez MD, Tomas-Vila M. Gabaldon-Albero A, et al. Among authors: tomas vila m. Rev Neurol. 2019 Oct 16;69(8):332-336. doi: 10.33588/rn.6908.2019205. Rev Neurol. 2019. PMID: 31588987 Free article. Spanish.
[Neurological sequelae in patients with congenital cytomegalovirus].
de Juan Gallach A, Alemany Albert M, Marco Hernández AV, Boronat González N, Cernada Badía M, Tomás Vila M. de Juan Gallach A, et al. Among authors: tomas vila m. An Pediatr (Engl Ed). 2020 Aug;93(2):111-117. doi: 10.1016/j.anpedi.2019.12.021. Epub 2020 Feb 25. An Pediatr (Engl Ed). 2020. PMID: 32111550 Free article. Spanish.
[Fulminant acute cerebellitis: An under-diagnosed condition?].
Molina Corbacho M, Martín Birlanga F, Sarrión Sos N, Gargallo Tatay P, Tomás Vila M. Molina Corbacho M, et al. Among authors: tomas vila m. An Pediatr (Engl Ed). 2019 Mar;90(3):188-190. doi: 10.1016/j.anpedi.2018.03.017. An Pediatr (Engl Ed). 2019. PMID: 29773526 Free article. Spanish. No abstract available.
Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.
Marco-Hernández AV, Tomás-Vila M, Montoya-Filardi A, Barranco-González H, Vilchez Padilla JJ, Azorín I, Smeyers Dura P, Monfort-Membrado S, Pitarch-Castellano I, Martínez-Castellano F. Marco-Hernández AV, et al. Among authors: tomas vila m. Clin Genet. 2022 Feb;101(2):233-241. doi: 10.1111/cge.14093. Epub 2021 Dec 5. Clin Genet. 2022. PMID: 34842280
60 results