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

Year Number of Results
2002 2
2003 3
2006 2
2009 1
2010 3
2011 2
2012 4
2013 4
2014 5
2015 4
2016 2
2017 2
2018 2
2019 1
2020 1
2021 1
2023 2
2024 0

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35 results

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Page 1
Optical genome mapping for prenatal diagnosis: A prospective study.
Goumy C, Guy Ouedraogo Z, Soler G, Eymard-Pierre E, Laurichesse H, Delabaere A, Gallot D, Bouchet P, Perthus I, Pebrel-Richard C, Gouas L, Salaun G, Salse J, Véronèse L, Tchirkov A. Goumy C, et al. Among authors: eymard pierre e. Clin Chim Acta. 2023 Nov 1;551:117594. doi: 10.1016/j.cca.2023.117594. Epub 2023 Oct 12. Clin Chim Acta. 2023. PMID: 37832906
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E. Sferra A, et al. Among authors: eymard pierre e. Brain. 2021 Nov 29;144(10):3020-3035. doi: 10.1093/brain/awab185. Brain. 2021. PMID: 33964137 Free article.
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.
Dorboz I, Dumay-Odelot H, Boussaid K, Bouyacoub Y, Barreau P, Samaan S, Jmel H, Eymard-Pierre E, Cances C, Bar C, Poulat AL, Rousselle C, Renaldo F, Elmaleh-Bergès M, Teichmann M, Boespflug-Tanguy O. Dorboz I, et al. Among authors: eymard pierre e. Neurol Genet. 2018 Dec 3;4(6):e289. doi: 10.1212/NXG.0000000000000289. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30584594 Free PMC article.
Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.
Goumy C, Laffargue F, Eymard-Pierre E, Kemeny S, Gay-Bellile M, Gouas L, Gallot D, Francannet C, Tchirkov A, Pebrel-Richard C, Vago P. Goumy C, et al. Among authors: eymard pierre e. Am J Med Genet A. 2015 Jan;167A(1):250-3. doi: 10.1002/ajmg.a.36840. Epub 2014 Nov 25. Am J Med Genet A. 2015. PMID: 25425496
Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination.
Goumy C, Ouedraogo ZG, Bellemonte E, Eymard-Pierre E, Soler G, Perthus I, Pebrel-Richard C, Gouas L, Salaun G, Véronèse L, Laurichesse H, Darcha C, Tchirkov A. Goumy C, et al. Among authors: eymard pierre e. Diagnostics (Basel). 2023 Nov 30;13(23):3576. doi: 10.3390/diagnostics13233576. Diagnostics (Basel). 2023. PMID: 38066817 Free PMC article.
Ovarian failure related to eukaryotic initiation factor 2B mutations.
Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiffmann R, Boespflug-Tanguy O. Fogli A, et al. Among authors: eymard pierre e. Am J Hum Genet. 2003 Jun;72(6):1544-50. doi: 10.1086/375404. Epub 2003 Apr 21. Am J Hum Genet. 2003. PMID: 12707859 Free PMC article.
Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome.
Sarret C, Ashkavand Z, Paules E, Dorboz I, Pediaditakis P, Sumner S, Eymard-Pierre E, Francannet C, Krupenko NI, Boespflug-Tanguy O, Krupenko SA. Sarret C, et al. Among authors: eymard pierre e. NPJ Genom Med. 2019 Jul 23;4:17. doi: 10.1038/s41525-019-0092-9. eCollection 2019. NPJ Genom Med. 2019. PMID: 31341639 Free PMC article.
35 results