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

Year Number of Results
1991 1
1992 1
1993 1
1994 2
1995 3
1996 4
1997 1
1998 1
1999 5
2000 5
2001 4
2002 5
2003 1
2004 7
2005 6
2006 10
2007 7
2008 7
2009 14
2010 14
2011 10
2012 8
2013 6
2014 10
2015 8
2016 2
2017 6
2018 3
2019 5
2020 4
2021 1
2022 5
2023 7
2024 3

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156 results

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Page 1
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.
Genetics in Probands With Idiopathic Ventricular Fibrillation: A Multicenter Study.
Pannone L, Gauthey A, Conte G, Osei R, Campanale D, Baldi E, Berne P, Vicentini A, Vergara P, Sorgente A, Rootwelt-Norberg C, Della Rocca DG, Monaco C, Bisignani A, Miraglia V, Spolverini M, Paparella G, Overeinder I, Bala G, Almorad A, Ströker E, de Ravel T, Medeiros-Domingo A, Sieira J, Haugaa KH, Brugada P, La Meir M, Auricchio A, Chierchia GB, Van Dooren S, de Asmundis C. Pannone L, et al. Among authors: de ravel t. JACC Clin Electrophysiol. 2023 Aug;9(8 Pt 1):1296-1306. doi: 10.1016/j.jacep.2023.03.008. Epub 2023 May 24. JACC Clin Electrophysiol. 2023. PMID: 37227348
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Belga Ottoni Porto F, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Sener EC, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B, Kohl S. Solaki M, et al. Among authors: de ravel tjl. Hum Mutat. 2022 Jul;43(7):832-858. doi: 10.1002/humu.24371. Epub 2022 Apr 14. Hum Mutat. 2022. PMID: 35332618 Review.
Genetic testing in children with Brugada syndrome: results from a large prospective registry.
Pannone L, Bisignani A, Osei R, Gauthey A, Sorgente A, Vergara P, Monaco C, Della Rocca DG, Del Monte A, Strazdas A, Mojica J, Al Housari M, Miraglia V, Mouram S, Paparella G, Ramak R, Overeinder I, Bala G, Almorad A, Ströker E, Pappaert G, Sieira J, de Ravel T, La Meir M, Brugada P, Chierchia GB, Van Dooren S, de Asmundis C. Pannone L, et al. Among authors: de ravel t. Europace. 2023 May 19;25(5):euad079. doi: 10.1093/europace/euad079. Europace. 2023. PMID: 37061847 Free PMC article.
Clinical implementation of NIPT - technical and biological challenges.
Brady P, Brison N, Van Den Bogaert K, de Ravel T, Peeters H, Van Esch H, Devriendt K, Legius E, Vermeesch JR. Brady P, et al. Among authors: de ravel t. Clin Genet. 2016 May;89(5):523-30. doi: 10.1111/cge.12598. Epub 2015 May 4. Clin Genet. 2016. PMID: 25867715 Review.
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant 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, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, O'Donnell-Luria A, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad D, Talkowski ME, FitzPatrick DR, Boone PM. Ansari M, et al. Among authors: de ravel tjl. medRxiv [Preprint]. 2023 Sep 28:2023.09.27.23294269. doi: 10.1101/2023.09.27.23294269. medRxiv. 2023. PMID: 37808847 Free PMC article. Updated. Preprint.
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.
Social phenotypes in genetic syndromes.
Swillen A, de Ravel T, Oliver C. Swillen A, et al. Among authors: de ravel t. J Intellect Disabil Res. 2012 Oct;56(10):919-21. doi: 10.1111/j.1365-2788.2012.01620.x. J Intellect Disabil Res. 2012. PMID: 22973833 No abstract available.
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.
156 results