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Results by year

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

Year Number of Results
1950 1
1952 4
1954 3
1955 6
1956 10
1957 4
1958 4
1959 1
1960 3
1961 1
1963 1
1964 1
1965 4
1966 4
1967 2
1968 1
1971 1
1972 4
1974 1
1975 1
1976 2
1979 2
1981 2
1982 1
1983 6
1984 7
1985 9
1986 13
1987 9
1988 4
1989 11
1990 12
1991 10
1992 13
1993 13
1994 17
1995 16
1996 23
1997 10
1998 10
1999 29
2000 34
2001 24
2002 21
2003 25
2004 26
2005 25
2006 23
2007 37
2008 31
2009 31
2010 32
2011 44
2012 34
2013 42
2014 41
2015 42
2016 59
2017 54
2018 72
2019 89
2020 95
2021 117
2022 98
2023 112
2024 68
2025 1

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Search Results

1,393 results

Results by year

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Page 1
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
Lennox AL, Hoye ML, Jiang R, Johnson-Kerner BL, Suit LA, Venkataramanan S, Sheehan CJ, Alsina FC, Fregeau B, Aldinger KA, Moey C, Lobach I, Afenjar A, Babovic-Vuksanovic D, Bézieau S, Blackburn PR, Bunt J, Burglen L, Campeau PM, Charles P, Chung BHY, Cogné B, Curry C, D'Agostino MD, Di Donato N, Faivre L, Héron D, Innes AM, Isidor B, Keren B, Kimball A, Klee EW, Kuentz P, Küry S, Martin-Coignard D, Mirzaa G, Mignot C, Miyake N, Matsumoto N, Fujita A, Nava C, Nizon M, Rodriguez D, Blok LS, Thauvin-Robinet C, Thevenon J, Vincent M, Ziegler A, Dobyns W, Richards LJ, Barkovich AJ, Floor SN, Silver DL, Sherr EH. Lennox AL, et al. Among authors: fujita a. Neuron. 2020 May 6;106(3):404-420.e8. doi: 10.1016/j.neuron.2020.01.042. Epub 2020 Mar 4. Neuron. 2020. PMID: 32135084 Free PMC article.
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
Hamanaka K, Miyake N, Mizuguchi T, Miyatake S, Uchiyama Y, Tsuchida N, Sekiguchi F, Mitsuhashi S, Tsurusaki Y, Nakashima M, Saitsu H, Yamada K, Sakamoto M, Fukuda H, Ohori S, Saida K, Itai T, Azuma Y, Koshimizu E, Fujita A, Erturk B, Hiraki Y, Ch'ng GS, Kato M, Okamoto N, Takata A, Matsumoto N. Hamanaka K, et al. Among authors: fujita a. Genome Med. 2022 Apr 26;14(1):40. doi: 10.1186/s13073-022-01042-w. Genome Med. 2022. PMID: 35468861 Free PMC article.
Cannabidiol activates neuronal Kv7 channels.
Zhang HB, Heckman L, Niday Z, Jo S, Fujita A, Shim J, Pandey R, Al Jandal H, Jayakar S, Barrett LB, Smith J, Woolf CJ, Bean BP. Zhang HB, et al. Among authors: fujita a. Elife. 2022 Feb 18;11:e73246. doi: 10.7554/eLife.73246. Elife. 2022. PMID: 35179483 Free PMC article.
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, Koike H, Hashiguchi A, Takashima H, Sugiyama H, Kohno Y, Takiyama Y, Maeda K, Doi H, Koyano S, Takeuchi H, Kawamoto M, Kohara N, Ando T, Ieda T, Kita Y, Kokubun N, Tsuboi Y, Katoh K, Kino Y, Katsuno M, Iwasaki Y, Yoshida M, Tanaka F, Suzuki IK, Frith MC, Matsumoto N, Sobue G. Sone J, et al. Among authors: fujita a. Nat Genet. 2019 Aug;51(8):1215-1221. doi: 10.1038/s41588-019-0459-y. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332381
Mycobacterium kyorinense infection.
Ohnishi H, Yonetani S, Matsushima S, Wada H, Takeshita K, Kuramochi D, Caldas PC, Campos CE, da Costa BP, Ramos JP, Mikura S, Narisawa E, Fujita A, Funayama Y, Kobashi Y, Sakakibara Y, Ishiyama Y, Takakura S, Goto H, Watanabe T. Ohnishi H, et al. Among authors: fujita a. Emerg Infect Dis. 2013 Mar;19(3):508-10. doi: 10.3201/eid1903.12-0591. Emerg Infect Dis. 2013. PMID: 23750358 Free PMC article. No abstract available.
Molecular diagnosis of 405 individuals with autism spectrum disorder.
Miyake N, Tsurusaki Y, Fukai R, Kushima I, Okamoto N, Ohashi K, Nakamura K, Hashimoto R, Hiraki Y, Son S, Kato M, Sakai Y, Osaka H, Deguchi K, Matsuishi T, Takeshita S, Fattal-Valevski A, Ekhilevitch N, Tohyama J, Yap P, Keng WT, Kobayashi H, Takubo K, Okada T, Saitoh S, Yasuda Y, Murai T, Nakamura K, Ohga S, Matsumoto A, Inoue K, Saikusa T, Hershkovitz T, Kobayashi Y, Morikawa M, Ito A, Hara T, Uno Y, Seiwa C, Ishizuka K, Shirahata E, Fujita A, Koshimizu E, Miyatake S, Takata A, Mizuguchi T, Ozaki N, Matsumoto N. Miyake N, et al. Among authors: fujita a. Eur J Hum Genet. 2023 Mar 27. doi: 10.1038/s41431-023-01335-7. Online ahead of print. Eur J Hum Genet. 2023. PMID: 36973392
1,393 results