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

Year Number of Results
1953 2
1954 1
1956 1
1961 1
1964 1
1966 1
1980 1
1988 1
1997 2
2001 3
2002 1
2003 1
2004 3
2005 3
2007 2
2008 4
2009 3
2010 3
2011 2
2012 6
2013 4
2014 4
2017 1
2018 1
2019 2
2020 5
2021 10
2022 4
2023 3
2024 2

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73 results

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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: marti i. 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: marti i. Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2. Genome Med. 2023. PMID: 37679823 Free PMC article.
Risk factors for developing ventilator-associated lower respiratory tract infection in patients with severe COVID-19: a multinational, multicentre study, prospective, observational study.
Reyes LF, Rodriguez A, Fuentes YV, Duque S, García-Gallo E, Bastidas A, Serrano-Mayorga CC, Ibáñez-Prada ED, Moreno G, Ramirez-Valbuena PC, Ospina-Tascon G, Hernandez G, Silva E, Díaz AM, Jibaja M, Vera-Alarcon M, Díaz E, Bodí M, Solé-Violán J, Ferrer R, Albaya-Moreno A, Socias L, Figueroa W, Lozano-Villanueva JL, Varón-Vega F, Estella Á, Loza-Vazquez A, Jorge-García R, Sancho I, Shankar-Hari M, Martin-Loeches I; LIVEN-Covid-19; SEMICYUC Study Group. Reyes LF, et al. Sci Rep. 2023 Apr 21;13(1):6553. doi: 10.1038/s41598-023-32265-5. Sci Rep. 2023. PMID: 37085552 Free PMC article.
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
Nuovo S, Micalizzi A, Romaniello R, Arrigoni F, Ginevrino M, Casella A, Serpieri V, D'Arrigo S, Briguglio M, Salerno GG, Rossato S, Sartori S, Leuzzi V, Battini R, Ben-Zeev B, Graziano C, Mirabelli Badenier M, Brankovic V, Nardocci N, Spiegel R, Petković Ramadža D, Vento G, Marti I, Simonati A, Dipresa S, Freri E, Mazza T, Bassi MT, Bosco L, Travaglini L, Zanni G, Bertini ES, Vanacore N, Borgatti R, Valente EM. Nuovo S, et al. Among authors: marti i. J Med Genet. 2022 Apr;59(4):399-409. doi: 10.1136/jmedgenet-2020-107497. Epub 2021 Mar 5. J Med Genet. 2022. PMID: 34085948
COVID-19 in children with neuromuscular disorders.
Natera-de Benito D, Aguilera-Albesa S, Costa-Comellas L, García-Romero M, Miranda-Herrero MC, Rúbies Olives J, García-Campos Ó, Martínez Del Val E, Martinez Garcia MJ, Medina Martínez I, Cancho-Candela R, Fernandez-Garcia MA, Pascual-Pascual SI, Gómez-Andrés D, Nascimento A; Neuromuscular Working Group of Spanish Pediatric Neurology Society. Natera-de Benito D, et al. J Neurol. 2021 Sep;268(9):3081-3085. doi: 10.1007/s00415-020-10339-y. Epub 2021 Jan 2. J Neurol. 2021. PMID: 33387010 Free PMC article.
[Crossed buccofacial apraxia].
Martí I, Moreno F, Mendioroz M, Martí Massó J. Martí I, et al. Neurologia. 2001 Aug-Sep;16(7):322-4. Neurologia. 2001. PMID: 11485725 Spanish.
Continuous flow structuring of anisotropic biopolymer particles.
Erni P, Cramer C, Marti I, Windhab EJ, Fischer P. Erni P, et al. Among authors: marti i. Adv Colloid Interface Sci. 2009 Aug 30;150(1):16-26. doi: 10.1016/j.cis.2009.05.005. Epub 2009 May 18. Adv Colloid Interface Sci. 2009. PMID: 19481192 Review.
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.
Domínguez-González C, Madruga-Garrido M, Hirano M, Martí I, Martín MA, Munell F, Nascimento A, Olivé M, Quan J, Sardina MD, Martí R, Paradas C. Domínguez-González C, et al. Among authors: marti i. Orphanet J Rare Dis. 2021 Oct 2;16(1):407. doi: 10.1186/s13023-021-02030-w. Orphanet J Rare Dis. 2021. PMID: 34600563 Free PMC article. Review.
73 results