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Results by year

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

Year Number of Results
1995 1
1996 7
1997 5
1998 13
1999 13
2000 13
2001 11
2002 13
2003 6
2004 13
2005 16
2006 6
2007 21
2008 11
2009 12
2010 22
2011 16
2012 15
2013 23
2014 26
2015 31
2016 40
2017 28
2018 51
2019 61
2020 36
2021 36
2022 36
2023 28

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Article type

Publication date

PubMed for id: 1712636

500 results

Results by year

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Page 1
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.
Ballesta-Martínez MJ, Pérez-Fernández V, López-González V, Sánchez-Soler MJ, Serrano-Antón AT, Rodríguez-Peña LI, Barreda-Sánchez M, Armengol-Dulcet L, Guillén-Navarro E. Ballesta-Martínez MJ, et al. Orphanet J Rare Dis. 2023 Jul 21;18(1):201. doi: 10.1186/s13023-023-02809-z. Orphanet J Rare Dis. 2023. PMID: 37480025 Free PMC article. Review.
Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with a negative NIPT result, cytogenetic discrepancy in various tissues, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome.
Chen CP, Hsu TY, Chern SR, Wu PS, Wu FT, Pan YT, Lee CC, Chen WL, Wang W. Chen CP, et al. Taiwan J Obstet Gynecol. 2023 Jul;62(4):582-585. doi: 10.1016/j.tjog.2023.05.004. Taiwan J Obstet Gynecol. 2023. PMID: 37407199 Free article.
Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a positive NIPT result suspicious of trisomy 13, a CVS result of mosaic trisomy 13, cytogenetic discrepancy in various tissues and a favorable fetal outcome.
Chen CP, Chen M, Ma GC, Chang SP, Wu FT, Pan YT, Chern SR, Chen WL, Pan CW, Wang W. Chen CP, et al. Taiwan J Obstet Gynecol. 2023 Jul;62(4):577-581. doi: 10.1016/j.tjog.2023.05.003. Taiwan J Obstet Gynecol. 2023. PMID: 37407198 Free article.
Novel variants in established epilepsy genes in focal epilepsy.
Kovačević M, Milićević O, Branković M, Janković M, Novaković I, Sokić D, Ristić A, Shamsani J, Vojvodić N. Kovačević M, et al. Seizure. 2023 Aug;110:146-152. doi: 10.1016/j.seizure.2023.06.005. Epub 2023 Jun 7. Seizure. 2023. PMID: 37390664
Proximal 1q21 duplication: A syndrome or a susceptibility locus?
Levy M, Shohat M, Kahana S, Matar R, Klein K, Fishman IA, Gurevitch M, Basel-Salmon L, Maya I. Levy M, et al. Am J Med Genet A. 2023 Oct;191(10):2551-2557. doi: 10.1002/ajmg.a.63333. Epub 2023 Jun 26. Am J Med Genet A. 2023. PMID: 37357910
500 results