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

Year Number of Results
1969 1
1992 4
1993 2
1994 1
1995 1
1996 2
1997 6
1998 4
1999 6
2000 2
2001 7
2002 5
2003 7
2004 5
2005 8
2006 4
2007 4
2008 5
2009 4
2010 12
2011 10
2012 7
2013 6
2014 5
2015 7
2016 8
2017 8
2018 9
2019 9
2020 7
2021 11
2022 9
2023 2
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166 results
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Page 1
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
Collier JJ, Guissart C, Oláhová M, Sasorith S, Piron-Prunier F, Suomi F, Zhang D, Martinez-Lopez N, Leboucq N, Bahr A, Azzarello-Burri S, Reich S, Schöls L, Polvikoski TM, Meyer P, Larrieu L, Schaefer AM, Alsaif HS, Alyamani S, Zuchner S, Barbosa IA, Deshpande C, Pyle A, Rauch A, Synofzik M, Alkuraya FS, Rivier F, Ryten M, McFarland R, Delahodde A, McWilliams TG, Koenig M, Taylor RW. Collier JJ, et al. Among authors: rivier f. N Engl J Med. 2021 Jun 24;384(25):2406-2417. doi: 10.1056/NEJMoa1915722. N Engl J Med. 2021. PMID: 34161705 Free PMC article.
Autism and developmental disability caused by KCNQ3 gain-of-function variants.
Sands TT, Miceli F, Lesca G, Beck AE, Sadleir LG, Arrington DK, Schönewolf-Greulich B, Moutton S, Lauritano A, Nappi P, Soldovieri MV, Scheffer IE, Mefford HC, Stong N, Heinzen EL, Goldstein DB, Perez AG, Kossoff EH, Stocco A, Sullivan JA, Shashi V, Gerard B, Francannet C, Bisgaard AM, Tümer Z, Willems M, Rivier F, Vitobello A, Thakkar K, Rajan DS, Barkovich AJ, Weckhuysen S, Cooper EC, Taglialatela M, Cilio MR. Sands TT, et al. Among authors: rivier f. Ann Neurol. 2019 Aug;86(2):181-192. doi: 10.1002/ana.25522. Epub 2019 Jun 26. Ann Neurol. 2019. PMID: 31177578 Free article.
New insights into CC2D2A-related Joubert syndrome.
Harion M, Qebibo L, Riquet A, Rougeot C, Afenjar A, Garel C, Louha M, Lacaze E, Audic-Gérard F, Barth M, Berquin P, Bonneau D, Bourdain F, Busa T, Colin E, Cuisset JM, Des Portes V, Dorison N, Francannet C, Héron B, Laroche C, Lebrun M, Métreau J, Odent S, Pasquier L, Trujillo YP, Perrin L, Pinson L, Rivier F, Sigaudy S, Thauvin-Robinet C, Louvier UW, Labayle O, Rodriguez D, Valence S, Burglen L. Harion M, et al. Among authors: rivier f. J Med Genet. 2022 Nov 1:jmedgenet-2022-108754. doi: 10.1136/jmg-2022-108754. Online ahead of print. J Med Genet. 2022. PMID: 36319078
[Living Lab MACVIA. Disability].
Laffont I, Jourdan C, Coroian F, Blain H, Carre V, Viollet E, Tavares I, Fattal C, Gelis A, Nouvel F, Bakhti K, Cros V, Patte K, Schifano L, Porte M, Galano E, Dray G, Fouletier M, Rivier F, Morales R, Labauge P, Camu W, Combe B, Morel J, Froger J, Coulet B, Cottalorda J, Kouyoumdjian P, Jonquet O, Landreau L, Bonnin HY, Hantkié O, Nicolas P, Enjalbert M, Leblond C, Soua B, Coignard P, Guiraud D, Azevedo C, Mottet D, Fraisse P, Pastor E, Mercier J, Bourret R, Bousquet J, Pélissier J, Bardy B, Herisson C, Dupeyron A. Laffont I, et al. Among authors: rivier f. Presse Med. 2015 Nov;44 Suppl 1:S60-9. doi: 10.1016/j.lpm.2015.07.007. Epub 2015 Oct 21. Presse Med. 2015. PMID: 26482491 French. No abstract available.
[Central manifestations of dystrophinopathies].
Cuisset JM, Rivier F. Cuisset JM, et al. Among authors: rivier f. Arch Pediatr. 2015 Dec;22(12 Suppl 1):12S58-62. doi: 10.1016/S0929-693X(16)30010-0. Arch Pediatr. 2015. PMID: 26773588 French.
Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype.
Coste T, Aloui C, Petit F, Moutton S, Devisme L, Wells CF, Leboucq N, Verpillat P, Yvert M, Rivier F, Tournier-Lasserve E. Coste T, et al. Among authors: rivier f. Ultrasound Obstet Gynecol. 2022 Dec;60(6):805-811. doi: 10.1002/uog.26046. Ultrasound Obstet Gynecol. 2022. PMID: 35943828
[Acute motor deficit in childhood: diagnosis management].
Roubertie A, Soëte S, Meyer P, Echenne B, Rivier F, Langlois C. Roubertie A, et al. Among authors: rivier f. Arch Pediatr. 2010 Mar;17(3):325-32. doi: 10.1016/j.arcped.2009.11.017. Epub 2009 Dec 31. Arch Pediatr. 2010. PMID: 20045298 Review. French.
166 results