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

Year Number of Results
1961 3
1962 1
1963 4
1964 1
1965 1
1966 3
1967 3
1968 3
1969 8
1970 2
1971 6
1972 7
1973 2
1974 3
1975 3
1976 5
1977 3
1978 4
1979 5
1980 8
1981 7
1982 4
1983 6
1984 3
1985 2
1986 4
1987 6
1988 8
1989 5
1990 16
1991 14
1992 15
1993 11
1994 22
1995 17
1996 12
1997 24
1998 27
1999 19
2000 40
2001 38
2002 17
2003 21
2004 26
2005 43
2006 38
2007 37
2008 30
2009 44
2010 62
2011 79
2012 80
2013 79
2014 72
2015 81
2016 79
2017 87
2018 85
2019 74
2020 102
2021 119
2022 79
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Article attribute
Article type
Publication date

Search Results

1,520 results
Results by year
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Page 1
Evidence-based clinical practice guideline for adult Still's disease.
Mimura T, Kondo Y, Ohta A, Iwamoto M, Ota A, Okamoto N, Kawaguchi Y, Kono H, Takasaki Y, Takei S, Nishimoto N, Fujimoto M, Asanuma YF, Mimori A, Okiyama N, Kaneko S, Takahashi H, Yokosawa M, Sumida T. Mimura T, et al. Among authors: okamoto n. Mod Rheumatol. 2018 Sep;28(5):736-757. doi: 10.1080/14397595.2018.1465633. Epub 2018 May 9. Mod Rheumatol. 2018. PMID: 29651907 Free article. Review.
Clinical practice guidance for juvenile idiopathic arthritis (JIA) 2018.
Okamoto N, Yokota S, Takei S, Okura Y, Kubota T, Shimizu M, Nozawa T, Iwata N, Umebayashi H, Kinjo N, Kunishima T, Yasumura J, Mori M. Okamoto N, et al. Mod Rheumatol. 2019 Jan;29(1):41-59. doi: 10.1080/14397595.2018.1514724. Epub 2018 Oct 29. Mod Rheumatol. 2019. PMID: 30126298 Free article.
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N. Takata A, et al. Among authors: okamoto n. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Chowdhury F, Wang L, Al-Raqad M, Amor DJ, Baxová A, Bendová Š, Biamino E, Brusco A, Caluseriu O, Cox NJ, Froukh T, Gunay-Aygun M, Hančárová M, Haynes D, Heide S, Hoganson G, Kaname T, Keren B, Kosaki K, Kubota K, Lemons JM, Magriña MA, Mark PR, McDonald MT, Montgomery S, Morley GM, Ohnishi H, Okamoto N, Rodriguez-Buritica D, Rump P, Sedláček Z, Schatz K, Streff H, Uehara T, Walia JS, Wheeler PG, Wiesener A, Zweier C, Kawakami K, Wentzensen IM, Lalani SR, Siu VM, Bi W, Balci TB. Chowdhury F, et al. Among authors: okamoto n. Genet Med. 2021 Jul;23(7):1234-1245. doi: 10.1038/s41436-021-01129-6. Epub 2021 Apr 6. Genet Med. 2021. PMID: 33824499 Free article.
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study,, Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R. Kennedy J, et al. Among authors: okamoto n. Genet Med. 2019 Apr;21(4):850-860. doi: 10.1038/s41436-018-0259-2. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245513 Free PMC article.
Editorial.
Gojobori T, Wada T, Watabe S, Okamoto N, Bernardi G. Gojobori T, et al. Among authors: okamoto n. Gene. 2016 Feb 1;576(2 Pt 1):592. doi: 10.1016/j.gene.2015.11.017. Gene. 2016. PMID: 26690055 No abstract available.
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, Morikawa M, Uno Y, Ishizuka K, Nakamura K, Tsujii M, Yoshikawa T, Toyota T, Okamoto N, Hiraki Y, Hashimoto R, Yasuda Y, Saitoh S, Ohashi K, Sakai Y, Ohga S, Hara T, Kato M, Nakamura K, Ito A, Seiwa C, Shirahata E, Osaka H, Matsumoto A, Takeshita S, Tohyama J, Saikusa T, Matsuishi T, Nakamura T, Tsuboi T, Kato T, Suzuki T, Saitsu H, Nakashima M, Mizuguchi T, Tanaka F, Mori N, Ozaki N, Matsumoto N. Takata A, et al. Among authors: okamoto n. Cell Rep. 2018 Jan 16;22(3):734-747. doi: 10.1016/j.celrep.2017.12.074. Cell Rep. 2018. PMID: 29346770 Free article.
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA, van Gassen KLI, Firth HV, Tomkins S, Bodek S; DDD Study, Õunap K, Wojcik MH, Cunniff C, Bergstrom K, Powis Z, Tang S, Shinde DN, Au C, Iglesias AD, Izumi K, Leonard J, Abou Tayoun A, Baker SW, Tartaglia M, Niceta M, Dentici ML, Okamoto N, Miyake N, Matsumoto N, Vitobello A, Faivre L, Philippe C, Gilissen C, Wiel L, Pfundt R, Deriziotis P, Brunner HG, Fisher SE. Snijders Blok L, et al. Among authors: okamoto n. Am J Hum Genet. 2019 Aug 1;105(2):403-412. doi: 10.1016/j.ajhg.2019.06.007. Epub 2019 Jul 11. Am J Hum Genet. 2019. PMID: 31303265 Free PMC article.
Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation.
Matsuda T, Kambe N, Ueki Y, Kanazawa N, Izawa K, Honda Y, Kawakami A, Takei S, Tonomura K, Inoue M, Kobayashi H, Okafuji I, Sakurai Y, Kato N, Maruyama Y, Inoue Y, Otsubo Y, Makino T, Okada S, Kobayashi I, Yashiro M, Ito S, Fujii H, Kondo Y, Okamoto N, Ito S, Iwata N, Kaneko U, Doi M, Hosokawa J, Ohara O, Saito MK, Nishikomori R; PIDJ members in the JSIAD; PIDJ (Primary Immunodeficiency and Autoinflammatory Diseases Database Project) members in the JSIAD (Japanese Society for Immunodeficiency and Autoinflammatory Diseases). Matsuda T, et al. Among authors: okamoto n. Ann Rheum Dis. 2020 Nov;79(11):1492-1499. doi: 10.1136/annrheumdis-2020-217320. Epub 2020 Jul 9. Ann Rheum Dis. 2020. PMID: 32647028
1,520 results