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Year Number of Results
2006 2
2007 1
2009 1
2011 1
2013 4
2014 2
2015 4
2016 2
2017 1
2019 2
2020 2
2021 4
2022 3
2023 3
2024 1

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32 results

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Page 1
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J. Poirier K, et al. Nat Genet. 2013 Jun;45(6):639-47. doi: 10.1038/ng.2613. Epub 2013 Apr 21. Nat Genet. 2013. PMID: 23603762 Free PMC article.
Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.
Montillot C, Skutunova E, Ayushma, Dubied M, Lahmar A, Nguyen S, Peerally B, Prin F, Duffourd Y, Thauvin-Robinet C, Duplomb L, Wang H, Ansar M, Faivre L, Navarro N, Minocha S, Collins SC, Yalcin B. Montillot C, et al. Among authors: nguyen s. Neurobiol Dis. 2023 Sep;185:106259. doi: 10.1016/j.nbd.2023.106259. Epub 2023 Aug 12. Neurobiol Dis. 2023. PMID: 37573958 Free article.
Dermatologic features of Smith-Magenis syndrome.
Guérin-Moreau M, Colin E, Nguyen S, Andrieux J, de Leersnyder H, Bonneau D, Martin L. Guérin-Moreau M, et al. Among authors: nguyen s. Pediatr Dermatol. 2015 May-Jun;32(3):337-41. doi: 10.1111/pde.12517. Epub 2015 Feb 12. Pediatr Dermatol. 2015. PMID: 25684097
American clinical neurophysiology society standardized EEG terminology and categorization for the description of continuous EEG monitoring in neonates: report of the American Clinical Neurophysiology Society critical care monitoring committee.
Tsuchida TN, Wusthoff CJ, Shellhaas RA, Abend NS, Hahn CD, Sullivan JE, Nguyen S, Weinstein S, Scher MS, Riviello JJ, Clancy RR; American Clinical Neurophysiology Society Critical Care Monitoring Committee. Tsuchida TN, et al. Among authors: nguyen s. J Clin Neurophysiol. 2013 Apr;30(2):161-73. doi: 10.1097/WNP.0b013e3182872b24. J Clin Neurophysiol. 2013. PMID: 23545767 Review. No abstract available.
Pneumococcal pneumonia and endotoxemia: An experimental and clinical reappraisal.
Godon J, Charles PE, Nguyen S, de Barros JP, Choubley H, Jacquier M, Tetu J, Quenot JP, Luu M, Binquet C, Masson D, Piroth L, Blot M; Pneumotoxemia study group. Godon J, et al. Among authors: nguyen s. Eur J Clin Invest. 2024 Jan;54(1):e14077. doi: 10.1111/eci.14077. Epub 2023 Aug 29. Eur J Clin Invest. 2024. PMID: 37642230
Anti-HMGCR Antibody-Related Necrotizing Autoimmune Myopathy Mimicking Muscular Dystrophy.
Tard C, Tiffreau V, Jaillette E, Jouen F, Nelson I, Bonne G, Yaou RB, Romero N, Vallée L, Vermersch P, Nguyen S, Maurage CA, Cuisset JM. Tard C, et al. Among authors: nguyen s. Neuropediatrics. 2017 Dec;48(6):473-476. doi: 10.1055/s-0037-1604402. Epub 2017 Aug 4. Neuropediatrics. 2017. PMID: 28778101 No abstract available.
Fetal sheep cerebral electrical activity: A new technique to record EEG.
Lacan L, Hamoud Y, Nguyen S, De Jonckheere J, Storme L, Houfflin-Debarge V, Auvin S, Sharma D, Garabedian C, Ghesquière L. Lacan L, et al. Among authors: nguyen s. J Neurosci Methods. 2020 Nov 1;345:108888. doi: 10.1016/j.jneumeth.2020.108888. Epub 2020 Aug 2. J Neurosci Methods. 2020. PMID: 32755616
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogné B, Conrad S, Tenconi R, Iascone M, Sorlin A, Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA, Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N, Denomme-Pichon AS, Duplomb L, Philippe C, Thauvin-Robinet C, Govin J, Faivre L, Vitobello A. Thomas Q, et al. Among authors: nguyen s. Genet Med. 2021 Oct;23(10):1901-1911. doi: 10.1038/s41436-021-01218-6. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113008 Free article.
32 results