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

Year Number of Results
1998 1
1999 4
2000 3
2001 5
2002 4
2003 1
2004 4
2005 8
2006 11
2007 9
2008 6
2009 5
2010 10
2011 11
2012 10
2013 9
2014 15
2015 7
2016 13
2017 11
2018 6
2019 3
2020 6
2021 12
2022 7
2023 7
2024 1

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171 results

Results by year

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Page 1
Rubinstein-Taybi syndrome.
Kosaki R. Kosaki R. Nihon Rinsho. 2017 Mar;75(3):498-503. Nihon Rinsho. 2017. PMID: 30566799 English, Japanese.
OEIS complex with del(3)(q12.2q13.2).
Kosaki R, Fukuhara Y, Kosuga M, Okuyama T, Kawashima N, Honna T, Ueoka K, Kosaki K. Kosaki R, et al. Am J Med Genet A. 2005 Jun 1;135(2):224-6. doi: 10.1002/ajmg.a.30733. Am J Med Genet A. 2005. PMID: 15887303 Review. No abstract available.
Multiple café au lait spots in familial patients with MAP2K2 mutation.
Takenouchi T, Shimizu A, Torii C, Kosaki R, Takahashi T, Saya H, Kosaki K. Takenouchi T, et al. Among authors: kosaki r. Am J Med Genet A. 2014 Feb;164A(2):392-6. doi: 10.1002/ajmg.a.36288. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311457 Review.
A Neonate with Mucopolysaccharidosis Type VII with Intractable Ascites.
Fukui K, Amari S, Yotani N, Kosaki R, Hata K, Kosuga M, Sago H, Isayama T, Ito Y. Fukui K, et al. Among authors: kosaki r. AJP Rep. 2023 Mar 16;13(1):e25-e28. doi: 10.1055/a-2028-7784. eCollection 2023 Jan. AJP Rep. 2023. PMID: 36936745 Free PMC article.
Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan.
Kaneko H, Takemoto M, Murakami H, Ihara K, Kosaki R, Motegi SI, Taniguchi A, Matsuo M, Yamazaki N, Nishigori C, Takita J, Koshizaka M, Maezawa Y, Yokote K. Kaneko H, et al. Among authors: kosaki r. Pediatr Int. 2022 Jan;64(1):e15120. doi: 10.1111/ped.15120. Pediatr Int. 2022. PMID: 35616152
Oral Baclofen Therapy for Multifocal Spinal Myoclonus with TBC1D24 Variant.
Murofushi Y, Hayakawa I, Kawai M, Abe Y, Kosaki R, Suzuki H, Takenouchi T, Kubota M. Murofushi Y, et al. Among authors: kosaki r. Mov Disord Clin Pract. 2023 Feb 24;10(4):719-721. doi: 10.1002/mdc3.13701. eCollection 2023 Apr. Mov Disord Clin Pract. 2023. PMID: 37070046 Free PMC article. No abstract available.
Diagnostic Performance of Noninvasive Computed Tomography-Derived Fractional Flow Reserve in Patients With Severe Aortic Stenosis.
Yamanaka F, Shishido K, Moriyama N, Ochiai T, Sato D, Koyama E, Sugiyama Y, Tamaki Y, Yamada T, Hayashi T, Miyashita H, Yokoyama H, Kosaki R, Yamashita T, Yamaguchi M, Yamagishi T, Matsumoto T, Tobita K, Mizuno S, Tanaka Y, Murakami M, Takahashi S, Tsujita K, Saito S. Yamanaka F, et al. Among authors: kosaki r. JACC Cardiovasc Imaging. 2023 Aug;16(8):1116-1117. doi: 10.1016/j.jcmg.2023.02.003. Epub 2023 Apr 12. JACC Cardiovasc Imaging. 2023. PMID: 37052558 No abstract available.
171 results