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Results by year

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

Year Number of Results
1975 1
1984 2
1985 1
1986 2
1987 1
1988 5
1989 2
1990 2
1991 1
1992 3
1994 1
1995 4
1997 3
1999 3
2000 2
2001 2
2002 4
2003 3
2004 1
2005 4
2006 4
2007 7
2008 4
2009 3
2010 4
2011 3
2012 1
2013 5
2014 6
2015 6
2016 8
2017 9
2018 6
2019 9
2020 8
2021 9
2022 9
2023 6
2024 1

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Article type

Publication date

Search Results

137 results

Results by year

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Page 1
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. Niggl E, et al. Among authors: spiller m. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005. Am J Hum Genet. 2023. PMID: 37541189 Free PMC article.
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature.
Taylor J, Spiller M, Ranguin K, Vitobello A, Philippe C, Bruel AL, Cappuccio G, Brunetti-Pierri N, Willems M, Isidor B, Park K, Balasubramanian M. Taylor J, et al. Among authors: spiller m. Am J Med Genet A. 2022 May;188(5):1497-1514. doi: 10.1002/ajmg.a.62677. Epub 2022 Feb 9. Am J Med Genet A. 2022. PMID: 35138025 Free PMC article. Review.
The chemical components of coffee.
Spiller MA. Spiller MA. Prog Clin Biol Res. 1984;158:91-147. Prog Clin Biol Res. 1984. PMID: 6396651 Review. No abstract available.
Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review.
Sabanathan S, Gulhane D, Mankad K, Davison J, Ong MT, Phadke R, Robinson R, Spiller M, Wakeling E, Ramdas S, Brady AF, Balasubramanian M, Munot P. Sabanathan S, et al. Among authors: spiller m. Neuromuscul Disord. 2023 Jan;33(1):50-57. doi: 10.1016/j.nmd.2022.10.004. Epub 2022 Oct 25. Neuromuscul Disord. 2023. PMID: 36522252 Review.
Folding and biogenesis of mitochondrial small Tim proteins.
Ceh-Pavia E, Spiller MP, Lu H. Ceh-Pavia E, et al. Among authors: spiller mp. Int J Mol Sci. 2013 Aug 13;14(8):16685-705. doi: 10.3390/ijms140816685. Int J Mol Sci. 2013. PMID: 23945562 Free PMC article. Review.
Evaluating Variance Estimators for Respondent-Driven Sampling.
Spiller MW, Gile KJ, Handcock MS, Mar CM, Wejnert C. Spiller MW, et al. J Surv Stat Methodol. 2017;2017:smx018. doi: 10.1093/jssam/smx018. Epub 2017 Aug 17. J Surv Stat Methodol. 2017. PMID: 29376083 Free PMC article. No abstract available.
Resource recovery from pig manure via an integrated approach: A technical and economic assessment for full-scale applications.
De Vrieze J, Colica G, Pintucci C, Sarli J, Pedizzi C, Willeghems G, Bral A, Varga S, Prat D, Peng L, Spiller M, Buysse J, Colsen J, Benito O, Carballa M, Vlaeminck SE. De Vrieze J, et al. Among authors: spiller m. Bioresour Technol. 2019 Jan;272:582-593. doi: 10.1016/j.biortech.2018.10.024. Epub 2018 Oct 11. Bioresour Technol. 2019. PMID: 30352731 Review.
137 results