Researcher
Boyan Dimitrov
- Keywords:Medicine
- Disciplines:Pediatrics, Genetics, Anthropological genetics
Affiliations
- Clinical sciences (Department)
Responsible
From1 Oct 2019 → 13 Feb 2022 - Clinical sciences (Department)
Responsible
From1 Oct 2019 → Today - Clinical sciences (Department)
Responsible
From1 Apr 2017 → 31 Mar 2019 - Medical Genetics (Department)
Member
From1 Sep 2015 → Today
Publications
1 - 9 of 9
- Implementation of fetal clinical exome sequencing(2022)
Authors: Martina Marangoni, Guillaume Smits, Gilles Ceysens, Elena Costa, Robert Coulon, Caroline Daelemans, Caroline De Coninck, Sara Derisbourg, Kalina Gajewska, Giulia Garofalo, et al.
Pages: 344-363Number of pages: 20 - Novel Variant in COL4A1 Causes Extensive Prenatal Intracranial Hemorrhage and Porencephaly(2021)
Authors: Stefanie Brock, Alex Michotte, Elisa Done, Astrid Leus, Mieke M Cannie, Kari De Pierre, Ramses Forsyth, Katrien Stouffs, Kathelijn Keymolen, Boyan Dimitrov, et al.
Pages: 807-810Number of pages: 4 - Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene(2016)
Authors: Melita D Irving, B I Dimitrov, Marja Wessels, Muriel Holder-Espinasse, David Chitayat, Michael A Simpson
Pages: 3133-3137Number of pages: 5 - 3p14 deletion is a rare contiguous gene syndrome(2015)
Authors: Boyan Dimitrov, C Ogilvie, D Wieczorek, E Wakeling, B Sikkema-Raddatz, C M A van Ravenswaaij-Arts, D Josifova
Pages: 1223-1230Number of pages: 8 - 2q31.1 microdeletion syndrome(2011)
Authors: Boyan Dimitrov, Irina Balikova, T de Ravel, Hilde Van Esch, Maryse De Smedt, Emiel Baten, Joris Robert Vermeesch, Irena Bradinova, Emil Simeonov, Koen Devriendt, et al.
Pages: 98-104Number of pages: 7 - 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)
Authors: B I Dimitrov, Thierry Voet, Luc De Smet, Joris Robert Vermeesch, Koen Devriendt, Jean-Pierre Fryns, Philippe Debeer
Pages: 569-574Number of pages: 6 - Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements(2010)
Authors: B I Dimitrov, T de Ravel, J Van Driessche, C de Die-Smulders, A Toutain, J R Vermeesch, J P Fryns, K. Devriendt, P Debeer
Pages: 103-111Number of pages: 9 - Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter(2009)
Authors: M Kirchhoff, AM Bisgaard, Boyan I Dimitrov, R Stoeva, G. Gillessen Kaesbach, J.p. Fryns, H Rose, L Grozdanova, I Ivanov, Kathelijn Keymolen, et al.
Pages: 894-905Number of pages: 11 - Clinical and molecular-cytogenetic studies of cryptic chromosome aberrations in individuals with idiopathic mental retardation and multiple congenital malformations(2009)
Authors: Radka E Stoeva, Liliana I Grozdanova, Joris R Vermeesch, Maria Kirchhoff, Jean-Pierre Fryns, Ivan S Ivanov, Iliana H Patcheva, Boyan Dimitrov, Tsanyu B Krastev, Alexander J Linev, et al.
Pages: 55-62Number of pages: 8