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

Year Number of Results
1993 1
2001 1
2005 1
2007 1
2008 3
2009 2
2010 4
2011 1
2012 9
2013 6
2014 9
2015 8
2016 5
2017 16
2018 16
2019 16
2020 12
2021 12
2022 16
2023 6
2024 0

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Similar articles for PMID: 23231787

125 results

Results by year

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Page 1
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, Mlynarski E, Lynch DR, Yan AC, Bilaniuk LT, Sullivan KE, Warren ST, Emanuel BS, Vermeesch JR, Zackai EH, Jerome-Majewska LA. McDonald-McGinn DM, et al. J Med Genet. 2013 Feb;50(2):80-90. doi: 10.1136/jmedgenet-2012-101320. Epub 2012 Dec 11. J Med Genet. 2013. PMID: 23231787 Free PMC article.
CEDNIK syndrome results from loss-of-function mutations in SNAP29.
Fuchs-Telem D, Stewart H, Rapaport D, Nousbeck J, Gat A, Gini M, Lugassy Y, Emmert S, Eckl K, Hennies HC, Sarig O, Goldsher D, Meilik B, Ishida-Yamamoto A, Horowitz M, Sprecher E. Fuchs-Telem D, et al. Br J Dermatol. 2011 Mar;164(3):610-6. doi: 10.1111/j.1365-2133.2010.10133.x. Epub 2011 Feb 17. Br J Dermatol. 2011. PMID: 21073448
CEDNIK syndrome with phenotypic variability.
Nanda A, Karam TM, AlLafi A. Nanda A, et al. Pediatr Dermatol. 2022 Jul;39(4):650-652. doi: 10.1111/pde.14961. Epub 2022 Mar 1. Pediatr Dermatol. 2022. PMID: 35229899
125 results