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

Year Number of Results
1993 1
1996 1
2000 2
2001 2
2002 1
2005 1
2006 2
2007 2
2008 1
2009 2
2010 3
2011 4
2012 5
2013 7
2014 14
2015 7
2016 5
2017 7
2018 3
2019 11
2020 17
2021 19
2022 16
2023 2

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113 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.
Neonatal SARS-CoV-2 Infections in Breastfeeding Mothers.
Shlomai NO, Kasirer Y, Strauss T, Smolkin T, Marom R, Shinwell ES, Simmonds A, Golan A, Morag I, Waisman D, Felszer-Fisch C, Wolf DG, Eventov-Friedman S. Shlomai NO, et al. Among authors: marom r. Pediatrics. 2021 May;147(5):e2020010918. doi: 10.1542/peds.2020-010918. Epub 2021 Apr 13. Pediatrics. 2021. PMID: 33850028
A Somnolent Neonate With Hypothermia and Posturing.
Nguyen JM, Kaushal S, Glinton KE, Marom R. Nguyen JM, et al. Among authors: marom r. Clin Pediatr (Phila). 2020 Jul;59(8):841-843. doi: 10.1177/0009922820920018. Epub 2020 May 13. Clin Pediatr (Phila). 2020. PMID: 32400174 No abstract available.
113 results