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

Year Number of Results
1996 1
1997 2
1998 5
1999 3
2000 3
2001 4
2002 4
2003 2
2004 2
2005 2
2006 3
2007 2
2008 2
2009 3
2010 3
2011 3
2012 6
2013 7
2014 8
2015 9
2016 11
2017 13
2018 10
2019 15
2020 15
2021 15
2022 5
2023 4
2024 4

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139 results

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Page 1
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.
Balwani M, Sardh E, Ventura P, Peiró PA, Rees DC, Stölzel U, Bissell DM, Bonkovsky HL, Windyga J, Anderson KE, Parker C, Silver SM, Keel SB, Wang JD, Stein PE, Harper P, Vassiliou D, Wang B, Phillips J, Ivanova A, Langendonk JG, Kauppinen R, Minder E, Horie Y, Penz C, Chen J, Liu S, Ko JJ, Sweetser MT, Garg P, Vaishnaw A, Kim JB, Simon AR, Gouya L; ENVISION Investigators. Balwani M, et al. Among authors: gouya l. N Engl J Med. 2020 Jun 11;382(24):2289-2301. doi: 10.1056/NEJMoa1913147. N Engl J Med. 2020. PMID: 32521132 Clinical Trial.
Porphyrias.
Puy H, Gouya L, Deybach JC. Puy H, et al. Among authors: gouya l. Lancet. 2010 Mar 13;375(9718):924-37. doi: 10.1016/S0140-6736(09)61925-5. Lancet. 2010. PMID: 20226990 Review.
Reply.
Karim Z, Puy H, Beaumont C, Gouya L, Kannengiesser C. Karim Z, et al. Among authors: gouya l. Gastroenterology. 2016 Oct;151(4):771-2. doi: 10.1053/j.gastro.2016.09.002. Epub 2016 Sep 10. Gastroenterology. 2016. PMID: 27623323 No abstract available.
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.
Stheneur C, Collod-Béroud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C. Stheneur C, et al. Among authors: gouya l. Eur J Hum Genet. 2009 Sep;17(9):1121-8. doi: 10.1038/ejhg.2009.36. Epub 2009 Mar 18. Eur J Hum Genet. 2009. PMID: 19293843 Free PMC article.
Porphyrias: A 2015 update.
Karim Z, Lyoumi S, Nicolas G, Deybach JC, Gouya L, Puy H. Karim Z, et al. Among authors: gouya l. Clin Res Hepatol Gastroenterol. 2015 Sep;39(4):412-25. doi: 10.1016/j.clinre.2015.05.009. Epub 2015 Jul 2. Clin Res Hepatol Gastroenterol. 2015. PMID: 26142871 Review.
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Sheykhkarimli D, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. van Loggerenberg W, et al. Among authors: gouya l. Am J Hum Genet. 2023 Oct 5;110(10):1769-1786. doi: 10.1016/j.ajhg.2023.08.012. Epub 2023 Sep 19. Am J Hum Genet. 2023. PMID: 37729906 Free PMC article.
[Porphyrias and haem related disorders].
Peoc'h K, Martin-Schmitt C, Talbi N, Deybach JC, Gouya L, Puy H. Peoc'h K, et al. Among authors: gouya l. Rev Med Interne. 2016 Mar;37(3):173-85. doi: 10.1016/j.revmed.2015.12.005. Epub 2016 Jan 7. Rev Med Interne. 2016. PMID: 26774916 Review. French.
Iron refractory iron deficiency anemia.
De Falco L, Sanchez M, Silvestri L, Kannengiesser C, Muckenthaler MU, Iolascon A, Gouya L, Camaschella C, Beaumont C. De Falco L, et al. Among authors: gouya l. Haematologica. 2013 Jun;98(6):845-53. doi: 10.3324/haematol.2012.075515. Haematologica. 2013. PMID: 23729726 Free PMC article. Review.
Porphyria and kidney diseases.
Pallet N, Karras A, Thervet E, Gouya L, Karim Z, Puy H. Pallet N, et al. Among authors: gouya l. Clin Kidney J. 2018 Apr;11(2):191-197. doi: 10.1093/ckj/sfx146. Epub 2018 Jan 10. Clin Kidney J. 2018. PMID: 29644058 Free PMC article.
139 results