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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S. Bauché S, et al. Among authors: boeuf b. Am J Hum Genet. 2016 Sep 1;99(3):753-761. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25. Am J Hum Genet. 2016. PMID: 27569547 Free PMC article.
[A lethal variant of Netherton syndrome in a large inbred family].
Capri Y, Vanlieferinghen P, Boeuf B, Dechelotte P, Hovnanian A, Lecomte B. Capri Y, et al. Among authors: boeuf b. Arch Pediatr. 2011 Mar;18(3):294-8. doi: 10.1016/j.arcped.2010.12.005. Epub 2011 Jan 20. Arch Pediatr. 2011. PMID: 21255986 French.
[Congenital lobar emphysema: a rare etiology of hyperechoic lung].
Konan Blé R, Coste K, Blanc P, Boeuf B, Lecomte B, Labbé A, Laurichesse-Delmas H, Déchelotte PJ, Lémery D, Gallot D. Konan Blé R, et al. Among authors: boeuf b. Gynecol Obstet Fertil. 2008 May;36(5):529-31. doi: 10.1016/j.gyobfe.2007.12.021. Epub 2008 May 6. Gynecol Obstet Fertil. 2008. PMID: 18462976 French.
[Ventricular septal defect of the neonate].
Joly H, Dauphin C, Motreff P, Boeuf B, Lusson JR. Joly H, et al. Among authors: boeuf b. Arch Mal Coeur Vaiss. 2004 May;97(5):540-5. Arch Mal Coeur Vaiss. 2004. PMID: 15214561 French.
[Antimicrobial prophylaxis for caesarean delivery: changes in practice and administration before incision, feasibility study to paediatricians in Auvergne].
Rambourdin M, Bonnin M, Storme B, Brunhes A, Boeuf B, Kauffmann S, Pinheiro H, Vernis L, Lavergne B, Gallot D, Vendittelli F, Bazin JE. Rambourdin M, et al. Among authors: boeuf b. Ann Fr Anesth Reanim. 2013 Jan;32(1):12-7. doi: 10.1016/j.annfar.2012.10.015. Epub 2012 Nov 27. Ann Fr Anesth Reanim. 2013. PMID: 23199847 French.
Autoantibodies against type I IFNs in patients with critical influenza pneumonia.
Zhang Q, Pizzorno A, Miorin L, Bastard P, Gervais A, Le Voyer T, Bizien L, Manry J, Rosain J, Philippot Q, Goavec K, Padey B, Cupic A, Laurent E, Saker K, Vanker M, Särekannu K; COVID Human Genetic Effort; Etablissement Français du Sang Study Group; Constances Cohort; 3C-Dijon Study; Cerba HealthCare Group; Lyon Antigrippe Working Group; REIPI INF Working Group; García-Salum T, Ferres M, Le Corre N, Sánchez-Céspedes J, Balsera-Manzanero M, Carratala J, Retamar-Gentil P, Abelenda-Alonso G, Valiente A, Tiberghien P, Zins M, Debette S, Meyts I, Haerynck F, Castagnoli R, Notarangelo LD, Gonzalez-Granado LI, Dominguez-Pinilla N, Andreakos E, Triantafyllia V, Rodríguez-Gallego C, Solé-Violán J, Ruiz-Hernandez JJ, Rodríguez de Castro F, Ferreres J, Briones M, Wauters J, Vanderbeke L, Feys S, Kuo CY, Lei WT, Ku CL, Tal G, Etzioni A, Hanna S, Fournet T, Casalegno JS, Queromes G, Argaud L, Javouhey E, Rosa-Calatrava M, Cordero E, Aydillo T, Medina RA, Kisand K, Puel A, Jouanguy E, Abel L, Cobat A, Trouillet-Assant S, García-Sastre A, Casanova JL. Zhang Q, et al. J Exp Med. 2022 Nov 7;219(11):e20220514. doi: 10.1084/jem.20220514. Epub 2022 Sep 16. J Exp Med. 2022. PMID: 36112363 Free PMC article.
73 results