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Results by year

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

Year Number of Results
1973 1
1975 2
1976 3
1977 1
1978 3
1982 1
1983 3
1984 1
1985 2
1989 3
1991 3
1992 2
1993 1
1994 3
1995 4
1996 3
1997 3
1998 3
1999 6
2000 8
2001 11
2002 6
2003 8
2004 11
2005 13
2006 9
2007 8
2008 13
2009 4
2010 13
2011 12
2012 16
2013 19
2014 24
2015 14
2016 10
2017 16
2018 20
2019 26
2020 19
2021 21
2022 20
2023 22

Text availability

Article attribute

Article type

Publication date

PubMed for id: 1672638

362 results

Results by year

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Page 1
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Sarkozy A, Sa M, Ridout D, Fernandez-Garcia MA, Distefano MG, Main M, Sheehan J, Manzur AY, Munot P, Robb S, Wraige E, Quinlivan R, Scoto M, Baranello G, Gowda V, Mein R, Phadke R, Jungbluth H, Muntoni F. Sarkozy A, et al. Neurology. 2023 Oct 10;101(15):e1495-e1508. doi: 10.1212/WNL.0000000000207723. Epub 2023 Aug 29. Neurology. 2023. PMID: 37643885
A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature.
Mancioppi V, Daffara T, Romanisio M, Ceccarini G, Pelosini C, Santini F, Bellone S, Mellone S, Baricich A, Rabbone I, Aimaretti G, Akinci B, Giordano M, Prodam F. Mancioppi V, et al. Front Endocrinol (Lausanne). 2023 Jul 12;14:1212729. doi: 10.3389/fendo.2023.1212729. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37501786 Free PMC article. Review.
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Nat Commun. 2023 Jun 9;14(1):3403. doi: 10.1038/s41467-023-39040-0. Nat Commun. 2023. PMID: 37296101 Free PMC article.
362 results