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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 6
2013 7
2014 14
2015 7
2016 5
2017 7
2018 11
2019 27
2020 24
2021 36
2022 24
2023 31
2024 16

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203 results

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Page 1
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions.
Bilgrav Saether K, Eisfeldt J, Bengtsson J, Lun MY, Grochowski CM, Mahmoud M, Chao HT, Rosenfeld JA, Liu P, Schuy J, Ameur A; Undiagnosed Diseases Network; Hwang JP, Sedlazeck FJ, Bi W, Marom R, Nordgren A, Carvalho CMB, Lindstrand A. Bilgrav Saether K, et al. Among authors: marom r. medRxiv [Preprint]. 2024 Apr 24:2024.04.22.24305780. doi: 10.1101/2024.04.22.24305780. medRxiv. 2024. PMID: 38712270 Free PMC article. Preprint.
Sterile Water Versus Glycine in Transurethral Resection of Bladder Tumors-Immunogenic and Clinical Implications.
Herzberg H, Babaoof R, Marom R, Veredgorn Y, Savin Z, Lifshitz K, Noefeld S, Lasmanovitz R, Bercovich S, Lamhoot T, Amir S, Beri A, Margel D, Baniel J, Mano R, Yossepowitch O. Herzberg H, et al. Among authors: marom r. Eur Urol Focus. 2024 Mar 19:S2405-4569(24)00046-4. doi: 10.1016/j.euf.2024.03.002. Online ahead of print. Eur Urol Focus. 2024. PMID: 38508896
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
203 results