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

Year Number of Results
1993 1
1999 1
2000 7
2001 7
2002 4
2003 2
2004 3
2005 8
2006 6
2007 3
2008 4
2010 3
2011 6
2012 5
2013 2
2014 1
2015 4
2016 1
2017 1
2018 10
2019 10
2020 5
2021 4
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83 results
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Page 1
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Bacquet J, Stojkovic T, Boyer A, Martini N, Audic F, Chabrol B, Salort-Campana E, Delmont E, Desvignes JP, Verschueren A, Attarian S, Chaussenot A, Delague V, Levy N, Bonello-Palot N. Bacquet J, et al. Among authors: delague v. BMJ Open. 2018 Oct 28;8(10):e021632. doi: 10.1136/bmjopen-2018-021632. BMJ Open. 2018. PMID: 30373780 Free PMC article.
Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.
Mortreux J, Bacquet J, Boyer A, Alazard E, Bellance R, Giguet-Valard AG, Cerino M, Krahn M, Audic F, Chabrol B, Laugel V, Desvignes JP, Béroud C, Nguyen K, Verschueren A, Lévy N, Attarian S, Delague V, Missirian C, Bonello-Palot N. Mortreux J, et al. Among authors: delague v. J Hum Genet. 2020 Mar;65(3):313-323. doi: 10.1038/s10038-019-0710-5. Epub 2019 Dec 18. J Hum Genet. 2020. PMID: 31852984
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: delague v. 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.
Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies.
Correard S, Plassais J, Lagoutte L, Botherel N, Thibaud JL, Hédan B, Richard L, Lia AS, Delague V, Mège C, Mathis S, Guaguère E, Paradis M, Vallat JM, Quignon P, André C. Correard S, et al. Among authors: delague v. Hum Genet. 2019 May;138(5):455-466. doi: 10.1007/s00439-019-02003-x. Epub 2019 Apr 6. Hum Genet. 2019. PMID: 30955094 Review.
Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review.
Nair P, El-Bazzal L, Mansour H, Sabbagh S, Al-Ali MT, Gambarini A, Delague V, El-Hayek S, Mégarbané A. Nair P, et al. Among authors: delague v. J Pediatr Genet. 2019 Dec;8(4):252-256. doi: 10.1055/s-0039-1693664. Epub 2019 Jul 30. J Pediatr Genet. 2019. PMID: 31687267 Free PMC article.
Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.
El-Bazzal L, Rihan K, Bernard-Marissal N, Castro C, Chouery-Khoury E, Desvignes JP, Atkinson A, Bertaux K, Koussa S, Lévy N, Bartoli M, Mégarbané A, Jabbour R, Delague V. El-Bazzal L, et al. Among authors: delague v. Hum Mol Genet. 2019 Jul 15;28(14):2378-2394. doi: 10.1093/hmg/ddz060. Hum Mol Genet. 2019. PMID: 31090908
Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype.
Chikhaoui A, Elouej S, Nabouli I, Jones M, Lagarde A, Ben Rekaya M, Messaoud O, Hamdi Y, Zghal M, Delague V, Levy N, De Sandre-Giovannoli A, Abdelhak S, Yacoub-Youssef H. Chikhaoui A, et al. Among authors: delague v. Front Genet. 2019 Feb 14;10:111. doi: 10.3389/fgene.2019.00111. eCollection 2019. Front Genet. 2019. PMID: 30838033 Free PMC article.
Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome.
Mégarbané A, Hana S, El-Hayek S, Gambarini A, Al-Ali MT, Delague V. Mégarbané A, et al. Among authors: delague v. Am J Med Genet A. 2020 Aug;182(8):1865-1872. doi: 10.1002/ajmg.a.61730. Epub 2020 Jul 2. Am J Med Genet A. 2020. PMID: 32618096
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