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Results by year

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

Year Number of Results
1978 1
1981 1
1984 1
1985 2
1986 2
1987 2
1988 2
1989 1
1990 2
1994 1
1997 3
1998 2
2001 2
2002 2
2003 2
2005 1
2006 1
2007 1
2008 3
2009 1
2010 2
2011 1
2012 2
2013 2
2014 8
2015 6
2016 4
2017 1
2018 3
2021 3
2022 1
2023 2
2024 0

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Publication date

PubMed for id: 326956

62 results

Results by year

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Page 1
Clinical characterization of familial 1p36.3 microduplication.
Jiao J, Wang Y, Hou Y, Gao C, Shi H, Tian S. Jiao J, et al. Neurogenetics. 2023 Jul;24(3):201-208. doi: 10.1007/s10048-023-00722-y. Epub 2023 Jun 8. Neurogenetics. 2023. PMID: 37289317 Free PMC article. Retracted.
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.
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
Contrò G, Micalizzi A, Giangiobbe S, Caraffi SG, Zuntini R, Rosato S, Pollazzon M, Terracciano A, Napoli M, Rizzi S, Salerno GG, Radio FC, Niceta M, Parrini E, Fusco C, Gargano G, Guerrini R, Tartaglia M, Novelli A, Zuffardi O, Garavelli L. Contrò G, et al. Genes (Basel). 2021 Aug 5;12(8):1208. doi: 10.3390/genes12081208. Genes (Basel). 2021. PMID: 34440382 Free PMC article.
Contiguous gene deletion of chromosome 2p16.3-p21 as a cause of Lynch syndrome.
Salo-Mullen EE, Lynn PB, Wang L, Walsh M, Gopalan A, Shia J, Tran C, Man FY, McBride S, Schattner M, Zhang L, Weiser MR, Stadler ZK. Salo-Mullen EE, et al. Fam Cancer. 2018 Jan;17(1):71-77. doi: 10.1007/s10689-017-0006-x. Fam Cancer. 2018. PMID: 28555354 Free PMC article. Review.
62 results