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

Year Number of Results
1989 1
1991 2
1992 2
1993 1
1995 2
1998 2
2002 2
2003 2
2004 1
2005 1
2006 5
2008 2
2009 3
2010 5
2011 3
2012 3
2013 5
2014 3
2015 2
2016 1
2017 2
2019 2
2021 1
2022 1
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48 results
Results by year
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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. Among authors: weis ma. 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.
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. Among authors: weis ma. 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.
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia.
Grigelioniene G, Suzuki HI, Taylan F, Mirzamohammadi F, Borochowitz ZU, Ayturk UM, Tzur S, Horemuzova E, Lindstrand A, Weis MA, Grigelionis G, Hammarsjö A, Marsk E, Nordgren A, Nordenskjöld M, Eyre DR, Warman ML, Nishimura G, Sharp PA, Kobayashi T. Grigelioniene G, et al. Among authors: weis ma. Nat Med. 2019 Apr;25(4):583-590. doi: 10.1038/s41591-019-0353-2. Epub 2019 Feb 25. Nat Med. 2019. PMID: 30804514 Free PMC article.
In reply.
Weis MA, Harper LM, Cahill AG. Weis MA, et al. Obstet Gynecol. 2013 Jan;121(1):190-1. doi: 10.1097/aog.0b013e31827b2803. Obstet Gynecol. 2013. PMID: 23262952 No abstract available.
Advances in collagen cross-link analysis.
Eyre DR, Weis MA, Wu JJ. Eyre DR, et al. Among authors: weis ma. Methods. 2008 May;45(1):65-74. doi: 10.1016/j.ymeth.2008.01.002. Methods. 2008. PMID: 18442706 Free PMC article.
48 results