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

Year Number of Results
1980 1
1991 1
1992 1
1994 1
1997 1
2000 1
2001 1
2007 2
2008 2
2010 2
2011 1
2012 1
2013 4
2014 4
2015 3
2016 1
2017 1
2018 2
2019 2
2020 3
2021 1
2023 3

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33 results

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Page 1
DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Among authors: sarrazin e. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769 Free article.
[Bilateral congenital blue sclera: Case report].
Bobelna B, Sarrazin E, Margot H, Merle H. Bobelna B, et al. Among authors: sarrazin e. J Fr Ophtalmol. 2023 Aug 22:S0181-5512(23)00358-3. doi: 10.1016/j.jfo.2023.06.005. Online ahead of print. J Fr Ophtalmol. 2023. PMID: 37620201 French. No abstract available.
[An overview of Duchenne muscular dystrophy in Martinique].
Sarrazin E, Valard-Giguet AG, Leturcq F, Bellance R. Sarrazin E, et al. Med Sci (Paris). 2018 Nov;34 Hors série n°2:45-48. doi: 10.1051/medsci/201834s215. Epub 2018 Nov 12. Med Sci (Paris). 2018. PMID: 30418149 Free article. French. No abstract available.
[Incontinentia pigmenti with subcortical band heterotopias].
Aoun A, Goizet C, Arveiler B, Sarrazin E, Derancourt C. Aoun A, et al. Among authors: sarrazin e. Arch Pediatr. 2015 Jan;22(1):109-10. doi: 10.1016/j.arcped.2014.10.006. Epub 2014 Nov 4. Arch Pediatr. 2015. PMID: 25435274 French. No abstract available.
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
Angelini C, Durand CM, Fergelot P, Deforges J, Vital A, Menegon P, Sarrazin E, Bellance R, Mathis S, Gonzalez V, Renaud M, Frismand S, Schmitt E, Rouanet M, Burglen L, Chabrol B, Desnous B, Arveiler B, Stevanin G, Coupry I, Goizet C. Angelini C, et al. Among authors: sarrazin e. Mov Disord. 2023 Aug 21. doi: 10.1002/mds.29576. Online ahead of print. Mov Disord. 2023. PMID: 37605305
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Margot H, Boursier G, Duflos C, Sanchez E, Amiel J, Andrau JC, Arpin S, Brischoux-Boucher E, Boute O, Burglen L, Caille C, Capri Y, Collignon P, Conrad S, Cormier-Daire V, Delplancq G, Dieterich K, Dollfus H, Fradin M, Faivre L, Fernandes H, Francannet C, Gatinois V, Gerard M, Goldenberg A, Ghoumid J, Grotto S, Guerrot AM, Guichet A, Isidor B, Jacquemont ML, Julia S, Khau Van Kien P, Legendre M, Le Quan Sang KH, Leheup B, Lyonnet S, Magry V, Manouvrier S, Martin D, Morel G, Munnich A, Naudion S, Odent S, Perrin L, Petit F, Philip N, Rio M, Robbe J, Rossi M, Sarrazin E, Toutain A, Van Gils J, Vera G, Verloes A, Weber S, Whalen S, Sanlaville D, Lacombe D, Aladjidi N, Geneviève D. Margot H, et al. Among authors: sarrazin e. Genet Med. 2020 Jan;22(1):181-188. doi: 10.1038/s41436-019-0623-x. Epub 2019 Jul 31. Genet Med. 2020. PMID: 31363182 Free article.
[Characteristics of neurofibromatosis type 1 in Martinique: a preliminary report].
Derancourt C, Briand N, Deschamps R, Janoyer M, Quist D, René Corail P, Bellance R, Sarrazin E. Derancourt C, et al. Among authors: sarrazin e. Ann Dermatol Venereol. 2015 Jan;142(1):50-1. doi: 10.1016/j.annder.2014.09.011. Epub 2014 Oct 16. Ann Dermatol Venereol. 2015. PMID: 25600796 French. No abstract available.
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I. Moutton S, et al. Among authors: sarrazin e. J Hum Genet. 2016 Aug;61(8):693-9. doi: 10.1038/jhg.2016.37. Epub 2016 May 19. J Hum Genet. 2016. PMID: 27193221
33 results