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Results by year

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

Year Number of Results
1976 2
1977 1
1978 2
1979 1
1980 2
1981 1
1982 10
1983 3
1984 3
1985 8
1986 7
1987 11
1988 12
1989 10
1990 7
1991 9
1992 3
1993 15
1994 7
1995 10
1996 6
1997 7
1998 10
1999 8
2000 11
2001 21
2002 13
2003 6
2004 16
2005 17
2006 10
2007 11
2008 9
2009 15
2010 20
2011 32
2012 32
2013 22
2014 24
2015 24
2016 40
2017 58
2018 53
2019 42
2020 36
2021 35
2022 21
2023 36
2024 22

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Publication date

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694 results

Results by year

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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.
694 results