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

Year Number of Results
1970 1
1973 1
1975 5
1976 6
1977 1
1978 4
1979 4
1980 1
1981 2
1982 5
1983 7
1984 8
1985 10
1986 3
1987 6
1988 7
1989 4
1990 6
1991 7
1992 10
1993 7
1994 10
1995 7
1996 7
1997 7
1998 10
1999 15
2000 7
2001 5
2002 12
2003 6
2004 7
2005 8
2006 9
2007 14
2008 14
2009 10
2010 11
2011 6
2012 15
2013 24
2014 20
2015 14
2016 18
2017 18
2018 16
2019 15
2020 17
2021 19
2022 19
2023 58
2024 24

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PubMed for id: 14518

500 results

Results by year

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Page 1
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Hannes L, Atzori M, Goldenberg A, Argente J, Attie-Bitach T, Amiel J, Attanasio C, Braslavsky DG, Bruel AL, Castanet M, Dubourg C, Jacobs A, Lyonnet S, Martinez-Mayer J, Pérez Millán MI, Pezzella N, Pelgrims E, Aerden M, Bauters M, Rochtus A, Scaglia P, Swillen A, Sifrim A, Tammaro R, Mau-Them FT, Odent S, Thauvin-Robinet C, Franco B, Breckpot J. Hannes L, et al. Genet Med. 2024 Apr;26(4):101059. doi: 10.1016/j.gim.2023.101059. Epub 2023 Dec 27. Genet Med. 2024. PMID: 38158857
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.
Iturrate A, Rivera-Barahona A, Flores CL, Otaify GA, Elhossini R, Perez-Sanz ML, Nevado J, Tenorio-Castano J, Triviño JC, Garcia-Gonzalo FR, Piceci-Sparascio F, De Luca A, Martínez L, Kalaycı T, Lapunzina P, Altunoglu U, Aglan M, Abdalla E, Ruiz-Perez VL. Iturrate A, et al. Am J Hum Genet. 2022 Oct 6;109(10):1828-1849. doi: 10.1016/j.ajhg.2022.08.009. Epub 2022 Sep 8. Am J Hum Genet. 2022. PMID: 36084634 Free PMC article.
500 results