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

Year Number of Results
2003 1
2004 1
2005 1
2006 4
2007 2
2008 2
2010 3
2011 3
2012 4
2013 2
2014 3
2015 2
2016 1
2017 2
2019 1
2020 4
2021 6
2022 5
2023 2
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44 results
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Page 1
Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.
Lafontaine M, Lia AS, Bourthoumieu S, Beauvais-Dzugan H, Derouault P, Arné-Bes MC, Sarret C, Laffargue F, Magot A, Sturtz F, Magy L, Magdelaine C. Lafontaine M, et al. Among authors: bourthoumieu s. Ann Clin Transl Neurol. 2021 Feb;8(2):471-476. doi: 10.1002/acn3.51175. Epub 2021 Jan 6. Ann Clin Transl Neurol. 2021. PMID: 33405357 Free PMC article.
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
Ganne B, Dauriat B, Richard L, Lamari F, Ghorab K, Magy L, Benkirane M, Perani A, Marquet V, Calvas P, Yardin C, Bourthoumieu S. Ganne B, et al. Among authors: bourthoumieu s. Neurol Sci. 2022 Nov;43(11):6517-6527. doi: 10.1007/s10072-022-06270-x. Epub 2022 Aug 4. Neurol Sci. 2022. PMID: 35925454 Review.
Unusual isochromosome 5p marker chromosome.
Roulet-Coudrier F, Rouibi A, Thuillier C, Bourthoumieu S, Lebbar A, Dupont JM, Yardin C. Roulet-Coudrier F, et al. Among authors: bourthoumieu s. Am J Med Genet A. 2015 Feb;167A(2):455-9. doi: 10.1002/ajmg.a.36843. Epub 2014 Nov 25. Am J Med Genet A. 2015. PMID: 25424187 No abstract available.
Follow-up of increased nuchal translucency: Results of a study of 398 cases.
Boutot M, Yardin C, Martin R, Bourthoumieu S, Aubard V, Martin S, Aubard Y, Coste-Mazeau P. Boutot M, et al. Among authors: bourthoumieu s. J Gynecol Obstet Hum Reprod. 2022 Dec;51(10):102482. doi: 10.1016/j.jogoh.2022.102482. Epub 2022 Oct 6. J Gynecol Obstet Hum Reprod. 2022. PMID: 36210052
Severe Phenotype in Patients with Large Deletions of NF1.
Pacot L, Vidaud D, Sabbagh A, Laurendeau I, Briand-Suleau A, Coustier A, Maillard T, Barbance C, Morice-Picard F, Sigaudy S, Glazunova OO, Damaj L, Layet V, Quelin C, Gilbert-Dussardier B, Audic F, Dollfus H, Guerrot AM, Lespinasse J, Julia S, Vantyghem MC, Drouard M, Lackmy M, Leheup B, Alembik Y, Lemaire A, Nitschké P, Petit F, Dieux Coeslier A, Mutez E, Taieb A, Fradin M, Capri Y, Nasser H, Ruaud L, Dauriat B, Bourthoumieu S, Geneviève D, Audebert-Bellanger S, Nizon M, Stoeva R, Hickman G, Nicolas G, Mazereeuw-Hautier J, Jannic A, Ferkal S, Parfait B, Vidaud M, Members Of The Nf France Network, Wolkenstein P, Pasmant E. Pacot L, et al. Among authors: bourthoumieu s. Cancers (Basel). 2021 Jun 13;13(12):2963. doi: 10.3390/cancers13122963. Cancers (Basel). 2021. PMID: 34199217 Free PMC article.
44 results