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Results by year

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

Year Number of Results
1976 1
1984 1
1991 1
1993 3
1996 2
1997 1
1999 1
2001 2
2003 2
2006 3
2007 3
2008 3
2009 1
2010 5
2011 2
2012 7
2013 11
2014 6
2015 9
2016 5
2017 7
2018 10
2019 11
2020 12
2021 13
2022 8
2023 10
2024 4

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PubMed for id: 342403

121 results

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Page 1
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Mirchi A, Guay SP, Tran LT, Wolf NI, Vanderver A, Brais B, Sylvain M, Pohl D, Rossignol E, Saito M, Moutton S, González-Gutiérrez-Solana L, Thiffault I, Kruer MC, Moron DG, Kauffman M, Goizet C, Sztriha L, Glamuzina E, Melançon SB, Naidu S, Retrouvey JM, Lacombe S, Bernardino-Cuesta B, De Bie I, Bernard G. Mirchi A, et al. J Med Genet. 2023 Oct;60(10):1026-1034. doi: 10.1136/jmg-2023-109223. Epub 2023 May 16. J Med Genet. 2023. PMID: 37197783 Free PMC article.
Identification of PMD subgroups using a myelination score for PMD.
Harting I, Garbade SF, Rosendaal SD, Mohr A, Sherbini O, Vanderver A, Wolf NI. Harting I, et al. Eur J Paediatr Neurol. 2022 Nov;41:71-79. doi: 10.1016/j.ejpn.2022.10.003. Epub 2022 Nov 4. Eur J Paediatr Neurol. 2022. PMID: 36368233 Free article.
121 results