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

Year Number of Results
2002 4
2003 4
2004 10
2005 8
2006 13
2007 13
2008 5
2009 7
2010 13
2011 10
2012 11
2013 15
2014 21
2015 17
2016 19
2017 34
2018 28
2019 31
2020 42
2021 61
2022 45
2023 25
2024 30
2025 34
2026 17

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444 results

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Page 1
Distinct pathophysiological mechanisms of CEP152 variants in microcephaly and brain abnormalities.
Hamada N, AlAbdi L, Uehara T, Sasikarn L, Nishijo T, Suliman-Lavie R, Hashem MO, Alfadhel M, Alhefdhi S, Tabarki B, Alghamdi M, Iwamoto I, Takenouchi T, Kosaki K, Shifman S, Mizuno S, Ohno N, Alkuraya FS, Nagata KI. Hamada N, et al. Among authors: kosaki k. EMBO Mol Med. 2026 Jun;18(6):2180-2212. doi: 10.1038/s44321-026-00427-3. Epub 2026 May 5. EMBO Mol Med. 2026. PMID: 42086905 Free PMC article.
Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population.
Yamazawa K, Ueki A, Kuga A, Hinoi T, Niitsu H, Minatogawa M, Kawano J, Minami S, Okawa M, Takei J, Ichikawa M, Enokido K, Akimaru N, Torii M, Tsuyuki S, Iguchi C, Inoue T, Nakajima T, Watanabe N, Tanoshima M, Harada-Shoji N, Taruno K, Arai M, Murakami F, Ogawa M, Tamura K, Sugano K, Tanakaya K, Inoue S, Murakami H, Nakashima M, Makabe T, Kosaki K, Matsui A. Yamazawa K, et al. Among authors: kosaki k. J Med Genet. 2026 May 25;63(6):393-404. doi: 10.1136/jmg-2025-111305. J Med Genet. 2026. PMID: 41856558 Free PMC article.
Two-decade trends in prenatal genetic testing in Japan.
Sasaki A, Yamada T, Sago H, Shirato N, Sekizawa A, Hata K, Masuzaki H, Masuzawa Y, Yamamoto T, Yoshihashi H, Tanaka S, Shibata Y, Fukushima KK, Kosaki K, Yamada S, Nishigaki M, Konishi I, Miyake H. Sasaki A, et al. Among authors: kosaki k. J Hum Genet. 2026 Mar 2. doi: 10.1038/s10038-026-01465-y. Online ahead of print. J Hum Genet. 2026. PMID: 41765987
Clinical characteristics of pulmonary non-tuberculous mycobacterial disease with CFTR variants in the Japanese population.
Nagao G, Namkoong H, Tanaka H, Asakura T, Hara A, Fukunaga N, Kaji M, Azekawa S, Nakagawara K, Morita A, Kamata H, Nishimura T, Miya F, Kosaki K, Fukunaga K, Holland SM, Hasegawa N. Nagao G, et al. Among authors: kosaki k. BMJ Open Respir Res. 2026 Feb 4;13(1):e003683. doi: 10.1136/bmjresp-2025-003683. BMJ Open Respir Res. 2026. PMID: 41638757 Free PMC article.
444 results