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

Year Number of Results
1972 1
1973 2
1974 1
1975 2
1977 2
1978 2
1979 2
1980 3
1981 4
1982 3
1983 4
1984 5
1985 2
1986 5
1987 2
1988 8
1989 7
1990 13
1991 18
1992 10
1993 17
1994 16
1995 11
1996 28
1997 15
1998 16
1999 19
2000 20
2001 20
2002 21
2003 17
2004 23
2005 21
2006 22
2007 17
2008 10
2009 8
2010 8
2011 7
2012 9
2013 4
2014 2
2015 1
2016 1
2017 1
2018 1
2019 1
2022 0
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Search Results

418 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: niikawa n. 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: niikawa n. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219. Nat Genet. 2012. PMID: 22426308
[Jarcho-Levin syndrome].
Yoshiura K, Niikawa N. Yoshiura K, et al. Among authors: niikawa n. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):196-7. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057193 Review. Japanese. No abstract available.
[Marden-Walker syndrome].
Kurotaki N, Niikawa N. Kurotaki N, et al. Among authors: niikawa n. Ryoikibetsu Shokogun Shirizu. 2001;(36):479-80. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11596443 Review. Japanese. No abstract available.
[Cerebral gigantism].
Niikawa N. Niikawa N. Nihon Rinsho. 2006 May 28;Suppl 1:224-7. Nihon Rinsho. 2006. PMID: 16776132 Review. Japanese. No abstract available.
Molecular basis of Sotos syndrome.
Niikawa N. Niikawa N. Horm Res. 2004;62 Suppl 3:60-5. doi: 10.1159/000080501. Horm Res. 2004. PMID: 15539801 Review.
Kabuki make-up syndrome: a review.
Matsumoto N, Niikawa N. Matsumoto N, et al. Among authors: niikawa n. Am J Med Genet C Semin Med Genet. 2003 Feb 15;117C(1):57-65. doi: 10.1002/ajmg.c.10020. Am J Med Genet C Semin Med Genet. 2003. PMID: 12561059 Review.
13q-/r(13) mosaicism.
Niikawa N, Tamura T, Tomiyasu F, Kajii T. Niikawa N, et al. J Med Genet. 1980 Aug;17(4):316-9. doi: 10.1136/jmg.17.4.316. J Med Genet. 1980. PMID: 7205909 Free PMC article.
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.
Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H, et al. Niikawa N, et al. Am J Med Genet. 1988 Nov;31(3):565-89. doi: 10.1002/ajmg.1320310312. Am J Med Genet. 1988. PMID: 3067577 Review.
[Cohen syndrome].
Kayashima T, Niikawa N. Kayashima T, et al. Among authors: niikawa n. Ryoikibetsu Shokogun Shirizu. 2001;(36):477-8. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11596442 Review. Japanese. No abstract available.
418 results