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

Year Number of Results
1949 1
1950 6
1951 5
1952 10
1953 15
1954 14
1955 9
1956 8
1957 12
1958 7
1959 13
1960 11
1961 11
1962 16
1963 25
1964 13
1965 11
1966 9
1967 16
1968 13
1969 10
1970 14
1971 5
1972 14
1973 7
1974 9
1975 7
1976 3
1977 7
1978 9
1979 12
1980 11
1981 14
1982 17
1983 14
1984 21
1985 17
1986 9
1987 8
1988 13
1989 8
1990 3
1991 1
1992 3
1993 1
1995 1
1998 5
2000 4
2001 3
2002 3
2003 3
2004 3
2005 2
2006 2
2007 4
2008 3
2009 3
2010 7
2011 6
2012 8
2013 11
2014 10
2015 8
2016 10
2017 16
2018 5
2019 17
2020 14
2021 11
2022 6
2023 11
2024 7
2025 4

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623 results

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Page 1
Clinical heterogeneity of NADSYN1-associated VCRL syndrome.
Aubert-Mucca M, Janel C, Porquet-Bordes V, Patat O, Touraine R, Edouard T, Michot C, Tessier A, Cormier-Daire V, Attie-Bitach T, Baujat G. Aubert-Mucca M, et al. Among authors: touraine r. Clin Genet. 2023 Jul;104(1):114-120. doi: 10.1111/cge.14328. Epub 2023 Mar 23. Clin Genet. 2023. PMID: 36951206
[Estivo-autumnal pollinosis].
Cornillon J, Bernard JP, Gueho E, Touraine R. Cornillon J, et al. Among authors: touraine r. Rev Fr Allergol. 1972 Oct-Dec;12(4):313-22. doi: 10.1016/s0035-2845(72)80023-4. Rev Fr Allergol. 1972. PMID: 4649616 French. No abstract available.
[Histiocytosis].
Touraine R, Sedel D, Revuz J, Wechsler J, Tulliez M. Touraine R, et al. Ann Dermatol Syphiligr (Paris). 1974;101(4):399-402. Ann Dermatol Syphiligr (Paris). 1974. PMID: 4466440 French. No abstract available.
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.
Ranta-Aho J, Felice KJ, Jonson PH, Sarparanta J, Yvorel C, Harzallah I, Touraine R, Pais L, Austin-Tse CA, Ganesh VS, O'Leary MC, Rehm HL, Hehir MK, Subramony S, Wu Q, Udd B, Savarese M. Ranta-Aho J, et al. Among authors: touraine r. Ann Clin Transl Neurol. 2024 Sep;11(9):2392-2405. doi: 10.1002/acn3.52154. Epub 2024 Aug 2. Ann Clin Transl Neurol. 2024. PMID: 39095936 Free PMC article.
Macular amyloidosis cutis.
Revuz J, Poirier J, Touraine R. Revuz J, et al. Among authors: touraine r. Br J Dermatol. 1972 Feb;86(2):203. doi: 10.1111/j.1365-2133.1972.tb16089.x. Br J Dermatol. 1972. PMID: 4335969 No abstract available.
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Husson T, Lecoquierre F, Nicolas G, Richard AC, Afenjar A, Audebert-Bellanger S, Badens C, Bilan F, Bizaoui V, Boland A, Bonnet-Dupeyron MN, Brischoux-Boucher E, Bonnet C, Bournez M, Boute O, Brunelle P, Caumes R, Charles P, Chassaing N, Chatron N, Cogné B, Colin E, Cormier-Daire V, Dard R, Dauriat B, Delanne J, Deleuze JF, Demurger F, Denommé-Pichon AS, Depienne C, Dieux A, Dubourg C, Edery P, El Chehadeh S, Faivre L, Fergelot P, Fradin M, Garde A, Geneviève D, Gilbert-Dussardier B, Goizet C, Goldenberg A, Gouy E, Guerrot AM, Guimier A, Harzalla I, Héron D, Isidor B, Lacombe D, Le Guillou Horn X, Keren B, Kuechler A, Lacaze E, Lavillaureix A, Lehalle D, Lesca G, Lespinasse J, Levy J, Lyonnet S, Morel G, Jean-Marçais N, Marlin S, Marsili L, Mignot C, Nambot S, Nizon M, Olaso R, Pasquier L, Perrin L, Petit F, Pingault V, Piton A, Prieur F, Putoux A, Planes M, Odent S, Quélin C, Quemener-Redon S, Rama M, Rio M, Rossi M, Schaefer E, Rondeau S, Saugier-Veber P, Smol T, Sigaudy S, Touraine R, Mau-Them FT, Trimouille A, Van Gils J, Vanlerberghe C, Vantalon V, Vera G, Vincent M, Ziegler A, Guillin O, Campion D, Charbonnier C. Husson T, et al. Among authors: touraine r. Eur J Hum Genet. 2024 Feb;32(2):190-199. doi: 10.1038/s41431-023-01474-x. Epub 2023 Oct 23. Eur J Hum Genet. 2024. PMID: 37872275 Free PMC article.
[Genetic diffuse cystic lung disease in adults].
Diesler R, Ahmad K, Chalabreysse L, Glérant JC, Harzallah I, Touraine R, Si-Mohamed S, Cottin V. Diesler R, et al. Among authors: touraine r. Rev Mal Respir. 2024 Jan;41(1):69-88. doi: 10.1016/j.rmr.2023.08.005. Epub 2023 Nov 10. Rev Mal Respir. 2024. PMID: 37951745 Review. French.
Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.
Serey-Gaut M, Balogoun R, Jonard L, Lina-Granade G, Touraine R, Willems M, Hepp N, Rendtorff ND, Bertelsen M, Loundon N, Couloigner V, Lemiere I, de Oliveira J, Romana S, Porteret C, Blanc P, Mansard L, Marlin S, Roux AF, Pingault V. Serey-Gaut M, et al. Among authors: touraine r. Hum Genet. 2025 Apr;144(4):433-441. doi: 10.1007/s00439-025-02730-4. Epub 2025 Feb 7. Hum Genet. 2025. PMID: 39918572
Psoriasis and hydroxyurea.
Touraine R, Revuz J, Tulliez M. Touraine R, et al. Br J Dermatol. 1972 Jan;86(1):102. doi: 10.1111/j.1365-2133.1972.tb01904.x. Br J Dermatol. 1972. PMID: 5060417 No abstract available.
623 results