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

Year Number of Results
1962 1
1965 3
1967 1
1968 2
1970 1
1971 2
1972 4
1974 3
1975 1
1976 2
1977 2
1978 4
1979 1
1980 4
1981 5
1982 5
1983 6
1984 2
1985 8
1986 3
1987 12
1988 6
1989 10
1990 10
1991 11
1992 11
1993 20
1994 19
1995 25
1996 24
1997 22
1998 25
1999 30
2000 26
2001 26
2002 26
2003 32
2004 32
2005 42
2006 23
2007 30
2008 37
2009 28
2010 41
2011 51
2012 46
2013 43
2014 43
2015 38
2016 34
2017 37
2018 43
2019 49
2020 46
2021 40
2022 64
2023 58
2024 47
2025 2

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1,136 results

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Page 1
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.
Kumble S, Levy AM, Punetha J, Gao H, Ah Mew N, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB; Undiagnosed Diseases Network; Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. Kumble S, et al. Among authors: rio m. Hum Mutat. 2022 Feb;43(2):266-282. doi: 10.1002/humu.24308. Epub 2021 Dec 11. Hum Mutat. 2022. PMID: 34859529 Free article.
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Tessadori F, Duran K, Knapp K, Fellner M; Deciphering Developmental Disorders Study; Smithson S, Beleza Meireles A, Elting MW, Waisfisz Q, O'Donnell-Luria A, Nowak C, Douglas J, Ronan A, Brunet T, Kotzaeridou U, Svihovec S, Saenz MS, Thiffault I, Del Viso F, Devine P, Rego S, Tenney J, van Haeringen A, Ruivenkamp CAL, Koene S, Robertson SP, Deshpande C, Pfundt R, Verbeek N, van de Kamp JM, Weiss JMM, Ruiz A, Gabau E, Banne E, Pepler A, Bottani A, Laurent S, Guipponi M, Bijlsma E, Bruel AL, Sorlin A, Willis M, Powis Z, Smol T, Vincent-Delorme C, Baralle D, Colin E, Revencu N, Calpena E, Wilkie AOM, Chopra M, Cormier-Daire V, Keren B, Afenjar A, Niceta M, Terracciano A, Specchio N, Tartaglia M, Rio M, Barcia G, Rondeau S, Colson C, Bakkers J, Mace PD, Bicknell LS, van Haaften G. Tessadori F, et al. Among authors: rio m. Am J Hum Genet. 2022 Apr 7;109(4):750-758. doi: 10.1016/j.ajhg.2022.02.003. Epub 2022 Feb 23. Am J Hum Genet. 2022. PMID: 35202563 Free PMC article.
A survey of openEHR Clinical Data Repositories.
Delussu G, Frexia F, Mascia C, Sulis A, Meloni V, Del Rio M, Lianas L. Delussu G, et al. Among authors: del rio m. Int J Med Inform. 2024 Nov;191:105591. doi: 10.1016/j.ijmedinf.2024.105591. Epub 2024 Aug 14. Int J Med Inform. 2024. PMID: 39191089 Review. No abstract available.
Cyclooxygenase-2 and gastric carcinogenesis.
Saukkonen K, Rintahaka J, Sivula A, Buskens CJ, Van Rees BP, Rio MC, Haglund C, Van Lanschot JJ, Offerhaus GJ, Ristimaki A. Saukkonen K, et al. Among authors: rio mc. APMIS. 2003 Oct;111(10):915-25. doi: 10.1034/j.1600-0463.2003.1111001.x. APMIS. 2003. PMID: 14616542 Review.
Skin bioengineering: preclinical and clinical applications.
Martínez-Santamaría L, Guerrero-Aspizua S, Del Río M. Martínez-Santamaría L, et al. Among authors: del rio m. Actas Dermosifiliogr. 2012 Jan;103(1):5-11. doi: 10.1016/j.adengl.2011.03.016. Epub 2012 Mar 29. Actas Dermosifiliogr. 2012. PMID: 22464599 Free article. Review.
openEHR Is FAIR-Enabling by Design.
Frexia F, Mascia C, Lianas L, Delussu G, Sulis A, Meloni V, Del Rio M, Zanetti G. Frexia F, et al. Among authors: del rio m. Stud Health Technol Inform. 2021 May 27;281:113-117. doi: 10.3233/SHTI210131. Stud Health Technol Inform. 2021. PMID: 34042716
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Küry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denommé-Pichon AS, Cogné B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, Õunap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Bréhéret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, Pérez-Peña H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Martínez F, Bézieau S, Kahle KT, Isidor B. Küry S, et al. Among authors: rio m. Genet Med. 2022 Sep;24(9):1941-1951. doi: 10.1016/j.gim.2022.05.009. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35678782 Free article.
[Skin bioengineering: preclinical and clinical applications].
Martínez-Santamaría L, Guerrero-Aspizua S, Del Río M. Martínez-Santamaría L, et al. Among authors: del rio m. Actas Dermosifiliogr. 2012 Jan-Feb;103(1):5-11. doi: 10.1016/j.ad.2011.03.006. Epub 2011 May 18. Actas Dermosifiliogr. 2012. PMID: 21596361 Free article. Review. Spanish.
Graphene-Incorporated Natural Fiber Polymer Composites: A First Overview.
da Luz FS, Garcia Filho FDC, Del-Río MTG, Nascimento LFC, Pinheiro WA, Monteiro SN. da Luz FS, et al. Among authors: del rio mtg. Polymers (Basel). 2020 Jul 18;12(7):1601. doi: 10.3390/polym12071601. Polymers (Basel). 2020. PMID: 32708475 Free PMC article. Review.
Infantile and pediatric quinone deficiency diseases.
Rötig A, Mollet J, Rio M, Munnich A. Rötig A, et al. Among authors: rio m. Mitochondrion. 2007 Jun;7 Suppl:S112-21. doi: 10.1016/j.mito.2007.02.008. Epub 2007 Mar 16. Mitochondrion. 2007. PMID: 17442627 Review.
1,136 results