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

Year Number of Results
1991 1
1992 1
1993 4
1994 1
1995 2
1996 2
1997 2
1998 2
1999 3
2000 6
2001 22
2002 3
2003 3
2004 2
2005 4
2006 3
2007 2
2008 5
2009 1
2010 5
2011 1
2012 3
2013 5
2014 3
2015 2
2016 3
2017 1
2018 3
2019 8
2020 3
2021 7
2022 5
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Search Results

108 results
Results by year
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Page 1
Kabuki syndrome: international consensus diagnostic criteria.
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board. Adam MP, et al. Among authors: kawame h. J Med Genet. 2019 Feb;56(2):89-95. doi: 10.1136/jmedgenet-2018-105625. Epub 2018 Dec 4. J Med Genet. 2019. PMID: 30514738
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N. Tsurusaki Y, et al. Among authors: kawame h. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219. Nat Genet. 2012. PMID: 22426308
[Carrier testing].
Kawame H. Kawame H. Nihon Rinsho. 2005 Dec;63 Suppl 12:99-103. Nihon Rinsho. 2005. PMID: 16416778 Review. Japanese. No abstract available.
[Hallermann-Streiff syndrome].
Kawame H. Kawame H. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):189-90. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057191 Review. Japanese. No abstract available.
[Mosaic variegated aneuploidy].
Kawame H. Kawame H. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):209-10. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528703 Review. Japanese. No abstract available.
[Cortical hyperostosis, infantile].
Kawame H. Kawame H. Ryoikibetsu Shokogun Shirizu. 2001;(33):496. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462534 Review. Japanese. No abstract available.
Study Profile of the Tohoku Medical Megabank Community-Based Cohort Study.
Hozawa A, Tanno K, Nakaya N, Nakamura T, Tsuchiya N, Hirata T, Narita A, Kogure M, Nochioka K, Sasaki R, Takanashi N, Otsuka K, Sakata K, Kuriyama S, Kikuya M, Tanabe O, Sugawara J, Suzuki K, Suzuki Y, Kodama EN, Fuse N, Kiyomoto H, Tomita H, Uruno A, Hamanaka Y, Metoki H, Ishikuro M, Obara T, Kobayashi T, Kitatani K, Takai-Igarashi T, Ogishima S, Satoh M, Ohmomo H, Tsuboi A, Egawa S, Ishii T, Ito K, Ito S, Taki Y, Minegishi N, Ishii N, Nagasaki M, Igarashi K, Koshiba S, Shimizu R, Tamiya G, Nakayama K, Motohashi H, Yasuda J, Shimizu A, Hachiya T, Shiwa Y, Tominaga T, Tanaka H, Oyama K, Tanaka R, Kawame H, Fukushima A, Ishigaki Y, Tokutomi T, Osumi N, Kobayashi T, Nagami F, Hashizume H, Arai T, Kawaguchi Y, Higuchi S, Sakaida M, Endo R, Nishizuka S, Tsuji I, Hitomi J, Nakamura M, Ogasawara K, Yaegashi N, Kinoshita K, Kure S, Sakai A, Kobayashi S, Sobue K, Sasaki M, Yamamoto M. Hozawa A, et al. Among authors: kawame h. J Epidemiol. 2021 Jan 5;31(1):65-76. doi: 10.2188/jea.JE20190271. Epub 2020 Jan 11. J Epidemiol. 2021. PMID: 31932529 Free PMC article.
[Acrocephalopolysyndactyly].
Kawame H. Kawame H. Ryoikibetsu Shokogun Shirizu. 2001;(33):117-8. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462358 Review. Japanese. No abstract available.
Japonica Array NEO with increased genome-wide coverage and abundant disease risk SNPs.
Sakurai-Yageta M, Kumada K, Gocho C, Makino S, Uruno A, Tadaka S, Motoike IN, Kimura M, Ito S, Otsuki A, Narita A, Kudo H, Aoki Y, Danjoh I, Yasuda J, Kawame H, Minegishi N, Koshiba S, Fuse N, Tamiya G, Yamamoto M, Kinoshita K. Sakurai-Yageta M, et al. Among authors: kawame h. J Biochem. 2021 Oct 12;170(3):399-410. doi: 10.1093/jb/mvab060. J Biochem. 2021. PMID: 34131746 Free PMC article.
108 results