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Page 1
Clinical and molecular aspects of RAS related disorders.
Denayer E, de Ravel T, Legius E. Denayer E, et al. Among authors: de ravel t. J Med Genet. 2008 Nov;45(11):695-703. doi: 10.1136/jmg.2007.055772. Epub 2008 Jun 11. J Med Genet. 2008. PMID: 18550698 Review.
Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature.
Robyns T, Nuyens D, Van Casteren L, Corveleyn A, De Ravel T, Heidbuchel H, Willems R. Robyns T, et al. Among authors: de ravel t. Indian Pacing Electrophysiol J. 2014 May 25;14(3):133-49. doi: 10.1016/s0972-6292(16)30754-9. eCollection 2014 May. Indian Pacing Electrophysiol J. 2014. PMID: 24948852 Free PMC article.
In Vivo Mapping of Human Ventricular Fibrillation in Brugada Syndrome: The Role of Repolarization Heterogeneity.
Pannone L, Della Rocca DG, Vergara P, Sorgente A, Del Monte A, Vetta G, Cespon Fernandez M, Talevi G, Eltsov I, Calburean PA, Overeinder I, Bala G, Almorad A, Ströker E, Pappaert G, Sieira J, de Ravel T, Van Dooren S, Gharaviri A, La Meir M, Brugada P, Chierchia GB, Sarkozy A, de Asmundis C. Pannone L, et al. Among authors: de ravel t. Circ Arrhythm Electrophysiol. 2024 Dec;17(12):e013290. doi: 10.1161/CIRCEP.124.013290. Epub 2024 Dec 3. Circ Arrhythm Electrophysiol. 2024. PMID: 39624903
Correlations of ventricular fibrillation and monomorphic ventricular tachycardia with SCN5A mutations and other clinical variables in Brugada syndrome.
Pannone L, Bisignani A, Osei R, Gauthey A, Sorgente A, Monaco C, Della Rocca DG, Del Monte A, Strazdas A, Mojica J, Al Housari M, Miraglia V, Mouram S, Vetta G, Paparella G, Doundoulakis I, Overeinder I, Bala G, Almorad A, Ströker E, Pappaert G, Sieira J, de Ravel T, La Meir M, Sarkozy A, Brugada P, Chierchia GB, Van Dooren S, de Asmundis C. Pannone L, et al. Among authors: de ravel t. Heart Rhythm. 2024 Aug 17:S1547-5271(24)03152-7. doi: 10.1016/j.hrthm.2024.08.032. Online ahead of print. Heart Rhythm. 2024. PMID: 39159802 No abstract available.
Genetic Testing in Brugada Syndrome: A 30-Year Experience.
Pannone L, Bisignani A, Osei R, Gauthey A, Sorgente A, Monaco C, Della Rocca DG, Del Monte A, Strazdas A, Mojica J, Al Housari M, Miraglia V, Mouram S, Vetta G, Paparella G, Ramak R, Overeinder I, Bala G, Almorad A, Ströker E, Pappaert G, Sieira J, de Ravel T, La Meir M, Sarkozy A, Brugada P, Chierchia GB, Van Dooren S, de Asmundis C. Pannone L, et al. Among authors: de ravel t. Circ Arrhythm Electrophysiol. 2024 Apr;17(4):e012374. doi: 10.1161/CIRCEP.123.012374. Epub 2024 Mar 1. Circ Arrhythm Electrophysiol. 2024. PMID: 38426305
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Dortenzio V, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad DF, O'Donnell-Luria A, Talkowski ME, FitzPatrick DR, Boone PM. Ansari M, et al. Among authors: de ravel tjl. HGG Adv. 2024 Apr 11;5(2):100273. doi: 10.1016/j.xhgg.2024.100273. Epub 2024 Jan 30. HGG Adv. 2024. PMID: 38297832 Free PMC article.
Macrocephaly? Do not Forget SUFU.
Rijckmans E, Bordon V, de Ravel T, Baert E, Jansen AC, Stouffs K. Rijckmans E, et al. Among authors: de ravel t. Pediatr Neurol. 2024 Feb;151:34-36. doi: 10.1016/j.pediatrneurol.2023.11.004. Epub 2023 Nov 25. Pediatr Neurol. 2024. PMID: 38101305 No abstract available.
162 results