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

Year Number of Results
2004 1
2005 1
2006 1
2008 1
2009 1
2011 1
2012 2
2013 3
2018 4
2019 5
2020 3
2021 1
2024 0

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21 results

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Page 1
Homozygous mutation in ELMO2 may cause Ramon syndrome.
Mehawej C, Hoischen A, Farah RA, Marey I, David M, Stora S, Lachlan K, Brunner HG, Mégarbané A. Mehawej C, et al. Among authors: stora s. Clin Genet. 2018 Mar;93(3):703-706. doi: 10.1111/cge.13166. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 29095483
Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer's disease-related dysregulation.
Haertle L, Müller T, Lardenoije R, Maierhofer A, Dittrich M, Riemens RJM, Stora S, Roche M, Leber M, Riedel-Heller S, Wagner M, Scherer M, Ravel A, Mircher C, Cieuta-Walti C, Durand S, van de Hove DLA, Hoffmann P, Ramirez A, Haaf T, El Hajj N, Mégarbané A. Haertle L, et al. Among authors: stora s. Clin Epigenetics. 2019 Dec 16;11(1):195. doi: 10.1186/s13148-019-0787-x. Clin Epigenetics. 2019. PMID: 31843015 Free PMC article.
Characterization of a ceramide kinase-like protein.
Bornancin F, Mechtcheriakova D, Stora S, Graf C, Wlachos A, Dévay P, Urtz N, Baumruker T, Billich A. Bornancin F, et al. Among authors: stora s. Biochim Biophys Acta. 2005 Feb 21;1687(1-3):31-43. doi: 10.1016/j.bbalip.2004.11.012. Biochim Biophys Acta. 2005. PMID: 15708351
Heart involvement in lamin A/C related diseases.
Ben Yaou R, Gueneau L, Demay L, Stora S, Chikhaoui K, Richard P, Bonne G. Ben Yaou R, et al. Among authors: stora s. Arch Mal Coeur Vaiss. 2006 Sep;99(9):848-55. Arch Mal Coeur Vaiss. 2006. PMID: 17067107 Review.
Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial.
Mircher C, Sacco S, Bouis C, Gallard J, Pichot A, Le Galloudec E, Cieuta C, Marey I, Greiner-Mahler O, Dorison N, Gambarini A, Stora S, Durand S, Polak M, Baruchel A, Schlumberger E, Dewailly J, Azar-Kolakez A, Guéant-Rodriguez RM, Guéant JL, Borderie D, Bonnefont-Rousselot D, Blondiaux E, Ravel A, Sturtz FG. Mircher C, et al. Among authors: stora s. Genet Med. 2020 Jan;22(1):44-52. doi: 10.1038/s41436-019-0597-8. Epub 2019 Jul 8. Genet Med. 2020. PMID: 31281181 Free article. Clinical Trial.
A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).
Mégarbané A, Hmaimess G, Bizzari S, El-Bazzal L, Al-Ali MT, Stora S, Delague V, El-Hayek S. Mégarbané A, et al. Among authors: stora s. Eur J Med Genet. 2019 Nov;62(11):103576. doi: 10.1016/j.ejmg.2018.11.010. Epub 2018 Nov 10. Eur J Med Genet. 2019. PMID: 30423442
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair P, Sabbagh S, Mansour H, Fawaz A, Hmaimess G, Noun P, Dagher R, Megarbane H, Hana S, Alame S, Lamaa M, Hasbini D, Farah R, Rajab M, Stora S, El-Tourjuman O, Abou Jaoude P, Chalouhi G, Sayad R, Gillart AC, Al-Ali M, Delague V, El-Hayek S, Mégarbané A. Nair P, et al. Among authors: stora s. Mol Genet Genomic Med. 2018 Nov;6(6):1041-1052. doi: 10.1002/mgg3.480. Epub 2018 Oct 7. Mol Genet Genomic Med. 2018. PMID: 30293248 Free PMC article.
21 results