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

Year Number of Results
1970 1
1973 1
1978 4
1979 1
1980 1
1981 9
1982 10
1983 3
1984 1
1985 4
1987 4
1989 2
1990 1
1991 2
1993 1
1994 1
1995 1
1996 1
1998 1
2000 3
2001 2
2002 1
2003 2
2005 2
2006 1
2007 3
2008 3
2009 1
2011 8
2012 2
2014 3
2015 3
2016 1
2017 3
2018 4
2019 4
2020 1
2021 2
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95 results
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Page 1
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Among authors: fribourg s. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates JR 3rd, Coulombe B, Bernard G. Thiffault I, et al. Among authors: fribourg s. Nat Commun. 2015 Jul 7;6:7623. doi: 10.1038/ncomms8623. Nat Commun. 2015. PMID: 26151409 Free PMC article.
Laparoelytrotomy.
Fribourg S. Fribourg S. Am J Obstet Gynecol. 1983 Jun 1;146(3):346-7. doi: 10.1016/0002-9378(83)90770-6. Am J Obstet Gynecol. 1983. PMID: 6859153 No abstract available.
Estriol.
Fribourg S. Fribourg S. JAMA. 1978 Sep 1;240(9):830. JAMA. 1978. PMID: 353316 Clinical Trial. No abstract available.
In vitro dimerization of human RIO2 kinase.
Maurice F, Pérébaskine N, Thore S, Fribourg S. Maurice F, et al. Among authors: fribourg s. RNA Biol. 2019 Nov;16(11):1633-1642. doi: 10.1080/15476286.2019.1653679. Epub 2019 Aug 14. RNA Biol. 2019. PMID: 31390939 Free PMC article.
The hRPC62 subunit of human RNA polymerase III displays helicase activity.
Ayoubi LE, Dumay-Odelot H, Chernev A, Boissier F, Minvielle-Sébastia L, Urlaub H, Fribourg S, Teichmann M. Ayoubi LE, et al. Among authors: fribourg s. Nucleic Acids Res. 2019 Nov 4;47(19):10313-10326. doi: 10.1093/nar/gkz788. Nucleic Acids Res. 2019. PMID: 31529052 Free PMC article.
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.
Gauquelin L, Cayami FK, Sztriha L, Yoon G, Tran LT, Guerrero K, Hocke F, van Spaendonk RML, Fung EL, D'Arrigo S, Vasco G, Thiffault I, Niyazov DM, Person R, Lewis KS, Wassmer E, Prescott T, Fallon P, McEntagart M, Rankin J, Webster R, Philippi H, van de Warrenburg B, Timmann D, Dixit A, Searle C; DDD Study,, Thakur N, Kruer MC, Sharma S, Vanderver A, Tonduti D, van der Knaap MS, Bertini E, Goizet C, Fribourg S, Wolf NI, Bernard G. Gauquelin L, et al. Among authors: fribourg s. Neurol Genet. 2019 Oct 30;5(6):e369. doi: 10.1212/NXG.0000000000000369. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 32042905 Free PMC article.
Structural and interaction analysis of the Rrp5 C-terminal region.
Pérébaskine N, Thore S, Fribourg S. Pérébaskine N, et al. Among authors: fribourg s. FEBS Open Bio. 2018 Aug 30;8(10):1605-1614. doi: 10.1002/2211-5463.12495. eCollection 2018 Oct. FEBS Open Bio. 2018. PMID: 30338212 Free PMC article.
95 results
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