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

Year Number of Results
2001 1
2004 1
2006 1
2007 1
2008 1
2009 1
2011 11
2012 13
2013 16
2014 17
2015 11
2016 13
2017 18
2018 6
2019 6
2020 4
2021 4
2022 2
2023 2
2024 0

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116 results

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Page 1
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay.
Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR; Undiagnosed Diseases Network; Westerfield M, De Matteis MA, Lee B. Marom R, et al. Am J Hum Genet. 2021 Sep 2;108(9):1710-1724. doi: 10.1016/j.ajhg.2021.08.002. Epub 2021 Aug 26. Am J Hum Genet. 2021. PMID: 34450031 Free PMC article.
ATRAID regulates the action of nitrogen-containing bisphosphonates on bone.
Surface LE, Burrow DT, Li J, Park J, Kumar S, Lyu C, Song N, Yu Z, Rajagopal A, Bae Y, Lee BH, Mumm S, Gu CC, Baker JC, Mohseni M, Sum M, Huskey M, Duan S, Bijanki VN, Civitelli R, Gardner MJ, McAndrew CM, Ricci WM, Gurnett CA, Diemer K, Wan F, Costantino CL, Shannon KM, Raje N, Dodson TB, Haber DA, Carette JE, Varadarajan M, Brummelkamp TR, Birsoy K, Sabatini DM, Haller G, Peterson TR. Surface LE, et al. Sci Transl Med. 2020 May 20;12(544):eaav9166. doi: 10.1126/scitranslmed.aav9166. Sci Transl Med. 2020. PMID: 32434850 Free PMC article.
Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasia.
Cabral WA, Fratzl-Zelman N, Weis M, Perosky JE, Alimasa A, Harris R, Kang H, Makareeva E, Barnes AM, Roschger P, Leikin S, Klaushofer K, Forlino A, Backlund PS, Eyre DR, Kozloff KM, Marini JC. Cabral WA, et al. Matrix Biol. 2020 Aug;90:20-39. doi: 10.1016/j.matbio.2020.02.003. Epub 2020 Feb 26. Matrix Biol. 2020. PMID: 32112888 Free PMC article.
116 results