Onderzoeker
Boyan Dimitrov
- Trefwoorden:Geneeskunde
- Disciplines:Pediatrie, Antropologische genetica, Genetica
Affiliaties
- Medische genetica (Departement)
Lid
Vanaf1 sep 2015 → Heden - Observerende Klinische wetenschappen (Departement)
Lid
Vanaf1 okt 2019 → 20 okt 2022 - Observerende Klinische wetenschappen (Departement)
Lid
Vanaf1 okt 2019 → 13 feb 2022 - Observerende Klinische wetenschappen (Departement)
Lid
Vanaf1 apr 2017 → Heden
Publicaties
1 - 10 van 12
- Gollop-Wolfgang Complex Is Associated with a Monoallelic Variation in WNT11(2024)
Auteurs: Adrian Odrzywolski, Beyhan Tüysüz, Philippe Debeer, Erika Souche, Arnout Voet, Boyan Dimitrov, Paulina Krzesińska, Joris Robert Vermeesch, Przemko Tylzanowski
- Population screening for 15q11-q13 duplications(2024)
Auteurs: Ilse Parijs, Nathalie Brison, Leen Vancoillie, Machteld Baetens, Bettina Blaumeiser, Sébastien Boulanger, Julie Désir, Boyan Dimitrov, Nathalie Fieremans, Katrien Janssens, et al.
Pagina's: 31-36 - Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology(2022)
Auteurs: Siddharth Banka, Abigail Bennington, Martin J Baker, Ellen Rijckmans, Giuliana D Clemente, Nurhuda Mohamad Ansor, Hilary Sito, Pritha Prasad, Kwame Anyane-Yeboa, Lauren Badalato, et al.
Pagina's: 4232-4245 - Implementation of fetal clinical exome sequencing(2022)
Auteurs: Martina Marangoni, Guillaume Smits, Gilles Ceysens, Elena Costa, Robert Coulon, Caroline Daelemans, Caroline De Coninck, Sara Derisbourg, Kalina Gajewska, Giulia Garofalo Geymonat, et al.
Pagina's: 344-363 - Novel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly(2021)
Auteurs: Stefanie Brock, Alex Michotte, Elisa Done, Astrid Leus, Mieke Cannie, Kari De Pierre, Ramses Forsyth, Katrien Stouffs, K. Keymolen, Boyan Dimitrov, et al.
Pagina's: 807-810 - Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene(2016)
Auteurs: Melita D Irving, Boyan Dimitrov, Marja W Wessels, Muriel Holder-Espinasse, David Chitayat, Michael A Simpson
Pagina's: 3133-3137 - 3p14 deletion is a rare contiguous gene syndrome(2015)
Auteurs: Boyan Dimitrov, C Ogilvie, D. Wieczorek, E Wakeling, B Sikkema-Raddatz, C M A van Ravenswaaij-Arts, D. Josifova
Pagina's: 1223-1230 - 2q31.1 microdeletion syndrome(2011)
Auteurs: Boyan Dimitrov, Irina Balikova, Hilde Van Esch, Maryse De Smedt, Emiel Baten, Joris Robert Vermeesch, Irena Bradinova, Emil Simeonov, Koen Devriendt, Jean-Pierre Fryns, et al.
Pagina's: 98-104 - Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly(2010)
Auteurs: Boyan Dimitrov, Thierry Voet, Luc De Smet, Joris Robert Vermeesch, Koen Devriendt, Jean-Pierre Fryns, Philippe Debeer
Pagina's: 569-574 - Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements(2010)
Auteurs: Boyan Dimitrov, Thomy De Ravel, Joris Van Driessche, C.e.m. De Die-Smulders, A Toutain, Jan Vermeesch, J.p. Fryns, Karel Devriendt, Ph. Debeer
Pagina's: 103-111