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Results by year

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

Year Number of Results
1980 1
1981 1
1982 2
1984 1
1987 1
1988 1
1989 1
1990 3
1991 2
1992 4
1993 4
1994 5
1995 8
1996 8
1997 8
1998 7
1999 11
2000 8
2001 22
2002 5
2003 2
2004 4
2005 3
2006 3
2007 2
2009 2
2011 1
2012 5
2013 1
2014 2
2015 1
2018 1
2019 4
2020 3
2021 1
2022 3
2023 2
2024 0

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139 results

Results by year

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Page 1
Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Greene D; Genomics England Research Consortium; Pirri D, Frudd K, Sackey E, Al-Owain M, Giese APJ, Ramzan K, Riaz S, Yamanaka I, Boeckx N, Thys C, Gelb BD, Brennan P, Hartill V, Harvengt J, Kosho T, Mansour S, Masuno M, Ohata T, Stewart H, Taibah K, Turner CLS, Imtiaz F, Riazuddin S, Morisaki T, Ostergaard P, Loeys BL, Morisaki H, Ahmed ZM, Birdsey GM, Freson K, Mumford A, Turro E. Greene D, et al. Among authors: masuno m. Nat Med. 2023 Mar;29(3):679-688. doi: 10.1038/s41591-023-02211-z. Epub 2023 Mar 16. Nat Med. 2023. PMID: 36928819 Free PMC article.
[Rhizomelic chondrodysplasia punctata].
Masuno M. Masuno M. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):281-3. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057229 Review. Japanese. No abstract available.
[Chondroectodermal dysplasia].
Masuno M. Masuno M. Ryoikibetsu Shokogun Shirizu. 2001;(33):375-6. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462482 Review. Japanese. No abstract available.
[Usher syndrome].
Masuno M. Masuno M. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):784-5. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11529022 Review. Japanese. No abstract available.
[Young-Simpson syndrome].
Masuno M. Masuno M. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):837-8. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11529049 Review. Japanese. No abstract available.
Premature thelarche in Rubinstein-Taybi syndrome.
Kurosawa K, Masuno M, Imaizumi K, Matsuo M, Kuroki Y, Tachibana K. Kurosawa K, et al. Among authors: masuno m. Am J Med Genet. 2002 Apr 15;109(1):72-3. doi: 10.1002/ajmg.10297. Am J Med Genet. 2002. PMID: 11932997 Review. No abstract available.
Pure duplication of 19p13.3.
Ishikawa A, Enomoto K, Tominaga M, Saito T, Nagai J, Furuya N, Ueno K, Ueda H, Masuno M, Kurosawa K. Ishikawa A, et al. Among authors: masuno m. Am J Med Genet A. 2013 Sep;161A(9):2300-4. doi: 10.1002/ajmg.a.36041. Epub 2013 Jul 29. Am J Med Genet A. 2013. PMID: 23897601
[Short rib-polydactyly syndrome, Majewski type].
Masuno M. Masuno M. Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):291-3. Ryoikibetsu Shokogun Shirizu. 2000. PMID: 11057233 Review. Japanese. No abstract available.
139 results