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

Year Number of Results
1993 4
2000 1
2001 1
2002 12
2003 6
2004 15
2005 16
2006 10
2007 10
2008 8
2009 11
2010 14
2011 30
2012 30
2013 22
2014 24
2015 24
2016 37
2017 54
2018 49
2019 42
2020 35
2021 34
2022 22
2023 36
2024 22

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489 results

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Page 1
Pilot study to evaluate the safety and effectiveness of etidronate treatment for arterial calcification due to deficiency of CD73 (ACDC).
Ferrante EA, Cudrici CD, Rashidi M, Fu YP, Huffstutler R, Carney K, Chen MY, St Hilaire C, Smith K, Bagheri H, Katz JD, Ferreira CR, Gahl WA, Boehm M, Brofferio A. Ferrante EA, et al. Among authors: gahl wa. Vasc Med. 2024 Apr 3:1358863X241235669. doi: 10.1177/1358863X241235669. Online ahead of print. Vasc Med. 2024. PMID: 38568107
Calciphylaxis in POEMS syndrome: Case report.
Novacic D, Uldrick T, Dulau-Florea A, Howe CE, Lee CR, Kong HH, Gahl WA. Novacic D, et al. Among authors: gahl wa. Rare. 2024;2:100019. doi: 10.1016/j.rare.2024.100019. Epub 2024 Feb 1. Rare. 2024. PMID: 38435320 Free PMC article.
A POLR3B-variant reveals a Pol III transcriptome response dependent on La protein/SSB.
Mattijssen S, Kerkhofs K, Stephen J, Yang A, Han CG, Tadafumi Y, Iben JR, Mishra S, Sakhawala RM, Ranjan A, Gowda M, Gahl WA, Gu S, Malicdan MC, Maraia RJ. Mattijssen S, et al. Among authors: gahl wa. bioRxiv [Preprint]. 2024 Feb 5:2024.02.05.577363. doi: 10.1101/2024.02.05.577363. bioRxiv. 2024. PMID: 38410490 Free PMC article. Preprint.
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.
Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia.
Otero MG, Kim J, Kushwaha YK, Rajewski A, Nonis FD, Santiskulvong C, Bannykh SI, Oza H, Farooqi HMU, Babros M, Freeman C, Dupuis L, Mercimek-Andrews S, Mendoza-Londono R, Bresee C, Adams DR, Tifft CJ, Toro C, Khanlou N, Gahl WA, Salamon N, Pierson TM. Otero MG, et al. Among authors: gahl wa. bioRxiv [Preprint]. 2024 Jan 30:2024.01.29.577876. doi: 10.1101/2024.01.29.577876. bioRxiv. 2024. PMID: 38352418 Free PMC article. Preprint.
489 results