Researcher
Thomy de Ravel
- Keywords:Medicine
Affiliations
- Medical Genetics (Department)
Member
From1 Nov 2018 → Today - Clinical sciences (Department)
Member
From1 Dec 2020 → Today - Clinical sciences (Department)
Member
From1 Dec 2020 → 20 Oct 2022
Publications
31 - 39 of 39
- Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features(2015)
Authors: Nathalie Fieremans, Hilde Van Esch, Thomy de Ravel, Jozef Van Driessche, Stefanie Belet, Marijke Bauters, Guy Froyen
Pages: 324-7 - Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65(2014)
Authors: Caterina Ripamonti, G Bruce Henning, Robin R Ali, James W Bainbridge, Scott J Robbie, Venki Sundaram, Vy A Luong, L Ingeborgh van den Born, Ingele Casteels, Thomy de Ravel, et al.
Pages: 6817-28 - Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy(2014)
Authors: Frauke Coppieters, Kristof Van Schil, Miriam Bauwens, Hannah Verdin, Annelies De Jaegher, Delfien Syx, Tom Sante, Steve Lefever, Nouha Bouayed Abdelmoula, Fanny Depasse, et al.
Pages: 671-80 - Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene(2014)
Authors: Christophe Vandenbriele, K. Peerlinck, Thomy de Ravel, P Verhamme, Thomas Vanassche
Pages: 139-41 - Presenting symptoms in adults with the 22q11 deletion syndrome(2014)
Authors: Annick Vogels, Sara Schevenels, Richard Cayenberghs, Eddy Weyts, Griet Van Buggenhout, Ann Swillen, Hilde Van Esch, Thomy de Ravel, Pieter Corveleyn, Koen Devriendt
Pages: 157-62 - Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants(2014)
Authors: Tesse Robyns, D. Nuyens, Lizzie Van Casteren, Anniek Corveleyn, Thomy de Ravel, Hein Heidbuchel, Rudi Willems
Pages: 133-49 - "Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion(2009)
Authors: Thomy de Ravel, Irina Balikova, Jozef Van Driessche, Joris Vermeesch, Jean-Pierre Fryns
Pages: 1315-6 - Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome(2009)
Authors: Thomy de Ravel, Irina Balikova, Paul Thiry, Joris R. Vermeesch, Jean-Pierre Frijns
Pages: 120-2 - Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome(2009)
Authors: Thomy de Ravel, Liliane Ameye, Katleen Ballon, Martine Borghgraef, Joris R. Vermeesch, Koen Devriendt
Pages: 145-7