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Results by year

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

Year Number of Results
1978 1
1979 3
1980 1
1983 2
1984 1
1985 2
1987 1
1990 1
1992 3
1993 6
1994 6
1995 5
1996 8
1997 1
1998 8
1999 7
2000 4
2001 2
2002 6
2003 5
2004 2
2005 4
2006 7
2007 7
2008 2
2009 6
2010 5
2011 3
2012 5
2013 8
2014 3
2015 5
2016 6
2017 4
2018 6
2019 6
2020 4
2021 5
2022 3
2023 4

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Publication date

Search Results

162 results

Results by year

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Page 1
Expanding the KIF4A-associated phenotype.
Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, Bupp C, Palen E, Wagner MD, Niceta M, Cesario C, Milone R, Kaplan J, Wadman E, Dobyns WB, Filges I. Kalantari S, et al. Among authors: rozet jm. Am J Med Genet A. 2021 Dec;185(12):3728-3739. doi: 10.1002/ajmg.a.62443. Epub 2021 Aug 3. Am J Med Genet A. 2021. PMID: 34346154 Free PMC article.
Congenital Microcoria: Clinical Features and Molecular Genetics.
Angée C, Nedelec B, Erjavec E, Rozet JM, Fares Taie L. Angée C, et al. Among authors: rozet jm. Genes (Basel). 2021 Apr 22;12(5):624. doi: 10.3390/genes12050624. Genes (Basel). 2021. PMID: 33922078 Free PMC article. Review.
Leber congenital amaurosis.
Perrault I, Rozet JM, Gerber S, Ghazi I, Leowski C, Ducroq D, Souied E, Dufier JL, Munnich A, Kaplan J. Perrault I, et al. Among authors: rozet jm. Mol Genet Metab. 1999 Oct;68(2):200-8. doi: 10.1006/mgme.1999.2906. Mol Genet Metab. 1999. PMID: 10527670 Review.
[Hereditary macular dystrophies].
Rozet JM, Gerber S, Ducroq D, Hamel C, Dufier JL, Kaplan J. Rozet JM, et al. J Fr Ophtalmol. 2005 Jan;28(1):113-24. doi: 10.1016/s0181-5512(05)81033-2. J Fr Ophtalmol. 2005. PMID: 15767907 Review. French.
MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy.
Gerber S, Orssaud C, Kaplan J, Johansson C, Rozet JM. Gerber S, et al. Among authors: rozet jm. Genes (Basel). 2021 Apr 2;12(4):521. doi: 10.3390/genes12040521. Genes (Basel). 2021. PMID: 33918393 Free PMC article.
Implication of non-coding PAX6 mutations in aniridia.
Plaisancié J, Tarilonte M, Ramos P, Jeanton-Scaramouche C, Gaston V, Dollfus H, Aguilera D, Kaplan J, Fares-Taie L, Blanco-Kelly F, Villaverde C, Francannet C, Goldenberg A, Arroyo I, Rozet JM, Ayuso C, Chassaing N, Calvas P, Corton M. Plaisancié J, et al. Among authors: rozet jm. Hum Genet. 2018 Oct;137(10):831-846. doi: 10.1007/s00439-018-1940-x. Epub 2018 Oct 5. Hum Genet. 2018. PMID: 30291432
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.
Gerber S, Lessard L, Rouzier C, Ait-El-Mkadem Saadi S, Ameli R, Thobois S, Abouaf L, Bouhour F, Kaplan J, Putoux A, Pegat A, Rozet JM. Gerber S, et al. Among authors: rozet jm. EMBO Mol Med. 2023 Aug 7;15(8):e16090. doi: 10.15252/emmm.202216090. Epub 2023 Jul 11. EMBO Mol Med. 2023. PMID: 37431816 Free PMC article.
162 results