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Year Number of Results
2014 2
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2016 9
2017 7
2018 7
2019 4
2020 2
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38 results

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Page 1
Osteogenesis imperfecta.
Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O. Marini JC, et al. Nat Rev Dis Primers. 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52. Nat Rev Dis Primers. 2017. PMID: 28820180 Review.
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M; University of Washington Center for Mendelian Genomics; Lachman RS, Krakow D, Cohn DH. Zhang W, et al. Hum Mutat. 2018 Jan;39(1):152-166. doi: 10.1002/humu.23362. Epub 2017 Nov 6. Hum Mutat. 2018. PMID: 29068549 Free PMC article.
Skeletal dysplasias.
Krakow D. Krakow D. Clin Perinatol. 2015 Jun;42(2):301-19, viii. doi: 10.1016/j.clp.2015.03.003. Epub 2015 Apr 8. Clin Perinatol. 2015. PMID: 26042906 Free PMC article. Review.
Dominant-negative SOX9 mutations in campomelic dysplasia.
Csukasi F, Duran I, Zhang W, Martin JH, Barad M, Bamshad M, Weis MA, Eyre D, Krakow D, Cohn DH. Csukasi F, et al. Hum Mutat. 2019 Dec;40(12):2344-2352. doi: 10.1002/humu.23888. Epub 2019 Aug 26. Hum Mutat. 2019. PMID: 31389106 Free PMC article.
Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.
Hanson-Kahn A, Li B, Cohn DH, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics; Hudgins L. Hanson-Kahn A, et al. Am J Med Genet A. 2018 Dec;176(12):2887-2891. doi: 10.1002/ajmg.a.40647. Epub 2018 Nov 18. Am J Med Genet A. 2018. PMID: 30450842 Free PMC article. Review.
38 results