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Results by year

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

Year Number of Results
1993 5
1994 1
2001 2
2002 3
2003 2
2004 2
2009 1
2010 2
2011 1
2012 1
2015 1
2017 1
2023 4
2024 0

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Article attribute

Article type

Publication date

PubMed for id: 4098

17 results

Results by year

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Page 1
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.
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD. Jackson GC, et al. Hum Mutat. 2012 Jan;33(1):144-57. doi: 10.1002/humu.21611. Epub 2011 Oct 31. Hum Mutat. 2012. PMID: 21922596 Free PMC article.
Achondrogenesis Type 1B.
Unger S, Superti-Furga A. Unger S, et al. 2002 Aug 30 [updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2002 Aug 30 [updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301689 Free Books & Documents. Review.
Diastrophic Dysplasia.
Unger S, Superti-Furga A. Unger S, et al. 2004 Nov 15 [updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2004 Nov 15 [updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301524 Free Books & Documents. Review.
SLC26A2-Related Atelosteogenesis.
Superti-Furga A, Unger S. Superti-Furga A, et al. 2002 Aug 30 [updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2002 Aug 30 [updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301493 Free Books & Documents. Review.
SLC26A2-Related Multiple Epiphyseal Dysplasia.
Unger S, Superti-Furga A. Unger S, et al. 2002 Aug 29 [updated 2023 Jan 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2002 Aug 29 [updated 2023 Jan 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301483 Free Books & Documents. Review.
Collagen structure and stability.
Shoulders MD, Raines RT. Shoulders MD, et al. Annu Rev Biochem. 2009;78:929-58. doi: 10.1146/annurev.biochem.77.032207.120833. Annu Rev Biochem. 2009. PMID: 19344236 Free PMC article. Review.
17 results