Onderzoeker
Thomy de Ravel de l'Argentière
- Disciplines:Genetica, Systeembiologie, Medische beeldvorming en therapie, Moleculaire en celbiologie, Andere paramedische wetenschappen
Affiliaties
- Departement Menselijke Erfelijkheid (Departement)
Lid
Vanaf1 dec 2000 → 30 sep 2018
Publicaties
1 - 10 van 100
- The clinical relevance of intragenic NRXN1 deletions(2020)
Auteurs: Nele Cosemans, Annick Vogels, Koenraad Devriendt, Hilde Van Esch, Griet Van Buggenhout, Thomy de Ravel de l'Argentière, Els Ortibus, Eric Legius, Jeroen Breckpot, Joris Vermeesch, et al.
Pagina's: 347 - 355 - BCAP31-related syndrome: The first de novo report(2020)
Auteurs: Thomy de Ravel de l'Argentière
- Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening(2019)
Auteurs: Nathalie Brison, Kristl Claeys, Thomy de Ravel de l'Argentière, Liesbeth De Waele, Nathalie Goemans, Eric Legius, Hilde Peeters, Hilde Van Esch, Joris Vermeesch, Koenraad Devriendt, et al.
Pagina's: 2774 - 2780 - Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site(2019)
Auteurs: Carlijn Brekelmans, Liesbet Geris, Frank Luyten, Raf Sciot, Thomy de Ravel de l'Argentière, Johan Lammens, Eric Legius, Hilde Brems
Pagina's: 1760 - 1767 - ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants(2019)
Auteurs: Thomy de Ravel de l'Argentière
Pagina's: 1761 - 1771 - Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders(2019)
Auteurs: Ingele Casteels, Thomy de Ravel de l'Argentière
Pagina's: 765 - 787 - Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M(2018)
Auteurs: Aspasia Destouni, Eftychia Dimitriadou, Heleen Masset, Sophie Debrock, Kris Van Den Bogaert, Jia Ding, Thierry Voet, Ellen Denayer, Thomy de Ravel de l'Argentière, Eric Legius, et al.
Pagina's: 2302 - 2311 - Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience(2018)
Auteurs: Simon Ardui, Thomy de Ravel de l'Argentière, Hilde Van Esch, Koenraad Devriendt, Gert Matthijs, Joris Vermeesch
- Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing(2018)
Auteurs: Nathalie Brison, Maria Neofytou, Baran Bayindir, Kris Van Den Bogaert, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel de l'Argentière, Koenraad Devriendt
Pagina's: 258 - 266 - FOXP1-related intellectual disability syndrome: a recognisable entity(2017)
Auteurs: Thomy de Ravel de l'Argentière, Djalila Mekahli
Pagina's: 613 - 623