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

Year Number of Results
2002 4
2003 3
2004 6
2005 7
2006 10
2007 6
2008 3
2009 7
2010 10
2011 14
2012 14
2013 9
2014 11
2015 13
2016 15
2017 7
2018 8
2019 17
2020 15
2021 19
2022 14
2023 12
2024 5

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196 results

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Page 1
IMPROVE 2022 International Meeting on Pathway-Related Obesity: Vision of Excellence.
Kühnen P, Argente J, Clément K, Dollfus H, Dubern B, Farooqi S, de Groot C, Grüters A, Holm JC, Hopkins M, Kleinendorst L, Körner A, Meeker D, Rydén M, von Schnurbein J, Tschöp M, Yeo GSH, Zorn S, Wabitsch M. Kühnen P, et al. Among authors: dollfus h. Clin Obes. 2024 Apr 11:e12659. doi: 10.1111/cob.12659. Online ahead of print. Clin Obes. 2024. PMID: 38602039
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1.
Pacot L, Sabbagh A, Sohier P, Hadjadj D, Ye M, Boland-Auge A, Bacq-Daian D, Laurendeau I, Briand-Suleau A, Deleuze JF, Margueron R, Vidaud M, Ferkal S, Parfait B, Vidaud D; NF-France Network; Pasmant E, Wolkenstein P. Pacot L, et al. Br J Dermatol. 2024 Jan 23;190(2):226-243. doi: 10.1093/bjd/ljad390. Br J Dermatol. 2024. PMID: 37831592
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.
Mancuso M, Lopriore P, Lamperti C, Klopstock T, Rahman S, Licchetta L, Kornblum C, Wortmann SB, Dollfus H, Papadopoulou MT, Arzimanoglou A, Scarpa M, Graessner H, Evangelista T. Mancuso M, et al. Among authors: dollfus h. J Neurol. 2024 Feb;271(2):835-840. doi: 10.1007/s00415-023-12017-1. Epub 2023 Oct 13. J Neurol. 2024. PMID: 37831128 Free PMC article.
Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev Y, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski M, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent A, Siskind CE, Traboulsi EI, Blackstone C, Sisk R, Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: dollfus h. bioRxiv [Preprint]. 2023 Jun 11:2023.06.09.544373. doi: 10.1101/2023.06.09.544373. bioRxiv. 2023. PMID: 37333224 Free PMC article. Preprint.
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Karam A, Delvallée C, Estrada-Cuzcano A, Geoffroy V, Lamouche JB, Leuvrey AS, Nourisson E, Tarabeux J, Stoetzel C, Scheidecker S, Porter LF, Génin E, Redon R, Sandron F, Boland A, Deleuze JF, Le May N, Dollfus H, Muller J. Karam A, et al. Among authors: dollfus h. Int J Mol Sci. 2023 May 13;24(10):8729. doi: 10.3390/ijms24108729. Int J Mol Sci. 2023. PMID: 37240074 Free PMC article.
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
196 results