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

Year Number of Results
1986 1
1988 1
1991 1
1997 1
1999 1
2000 1
2004 1
2007 1
2008 1
2009 1
2010 4
2011 2
2012 2
2013 1
2015 2
2016 2
2017 1
2018 1
2019 2
2020 1
2021 1
2024 0

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PubMed for Bookshelf ID: 3034214

25 results

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Page 1
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. Biesecker LG, et al. Am J Hum Genet. 2021 Jan 7;108(1):8-15. doi: 10.1016/j.ajhg.2020.11.013. Am J Hum Genet. 2021. PMID: 33417889 Free PMC article. Review.
[Porphyria cutanea tara].
Merk HF. Merk HF. Hautarzt. 2016 Mar;67(3):207-10. doi: 10.1007/s00105-015-3744-4. Hautarzt. 2016. PMID: 26743054 Review. German.
Timing, rates and spectra of human germline mutation.
Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, Dominiczak A, Morris A, Porteous D, Smith B, Stratton MR; UK10K Consortium; Hurles ME. Rahbari R, et al. Nat Genet. 2016 Feb;48(2):126-133. doi: 10.1038/ng.3469. Epub 2015 Dec 14. Nat Genet. 2016. PMID: 26656846 Free PMC article.
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Richards S, et al. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741868 Free PMC article.
Porphyrin and heme metabolism and the porphyrias.
Bonkovsky HL, Guo JT, Hou W, Li T, Narang T, Thapar M. Bonkovsky HL, et al. Compr Physiol. 2013 Jan;3(1):365-401. doi: 10.1002/cphy.c120006. Compr Physiol. 2013. PMID: 23720291 Review.
25 results