Onderzoeker
Annelies Dheedene
- Disciplines:Pediatrie en neonatologie, Moleculaire en celbiologie, Systeembiologie, Verpleegkunde, Genetica
Affiliaties
- Vakgroep Pediatrie en genetica (Departement)
Lid
Vanaf16 jul 2007 → 24 sep 2017
Publicaties
1 - 10 van 56
- De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity(2024)
Auteurs: Marine Tessarech, Gaëlle Friocourt, Florent Marguet, Maryline Lecointre, Morgane Le Mao, Rodrigo Muñoz Díaz, Cyril Mignot, Boris Keren, Bénédicte Héron, Charlotte De Bie, et al.
- Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability(2024)
Auteurs: Maria del Rocio Pérez Baca, Lies Vantomme, Pontus LeBlanc, Elke Bogaert, Annelies Dheedene, Laurenz De Cock, Sadegheh Haghshenas, Aidin Foroutan, Michael A Levy, Jennifer Kerkhof, et al.
Pagina's: 509 - 528 - Inherited pathogenic variants in neurodevelopmental disorders : a potential pitfall in triobased analysis of clinical exomes(2023)Volume: 31
Auteurs: Annelies Dheedene, Evelien Pouillie, Sarah Delbaere, Olivier Vanakker, Bert Callewaert, Björn Menten
Pagina's: 460 - 460 - Phenotypic and molecular heterogeneity in mandibulofacial dysostoses : a case series from India(2022)
Auteurs: Rathika D. Shenoy, Vikram Shetty, Annelies Dheedene, Björn Menten, Dechamma Pandyanda Nanjappa, Gunimala Chakraborty, Patrick Sips, Anne De Paepe, Bert Callewaert, Anirban Chakraborty
Pagina's: 1346 - 1351 - GENType : all-in-one preimplantation genetic testing by pedigree haplotyping and copy number profiling suitable for third-party reproduction(2022)
Auteurs: Lisa De Witte, Lennart Raman, Machteld Baetens, Andries De Koker, Nico Callewaert, Sofie Symoens, Kelly Tilleman, Frauke Vanden Meerschaut, Annelies Dheedene, Björn Menten
Pagina's: 1678 - 1691 - MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects(2022)
Auteurs: Juliette Coursimault, Anne-Marie Guerrot, Michelle M. Morrow, Catherine Schramm, Francisca Millan Zamora, Anita Shanmugham, Shuxi Liu, Fanggeng Zou, Frederic Bilan, Gwenael Le Guyader, et al.
Pagina's: 65 - 80 - Expanding the phenotype of B3GALNT2-related disorders(2022)
Auteurs: Erika D'haenens, Sarah Vergult, Björn Menten, Annelies Dheedene, R. Frank Kooy, Bert Callewaert
- A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene(2022)
Auteurs: Maria del Rocio Pérez Baca, Eva Jacobs, Lies Vantomme, Pontus LeBlanc, Elke Bogaert, Annelies Dheedene, Laurenz De Cock, Bart Dermaut, Aidin Foroutan, Jennifer Kerkhof, et al.
Aantal pagina's: 1 - Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome(2021)
Auteurs: Dong Li, Michael E. March, Paola Fortugno, Liza L. Cox, Leticia S. Matsuoka, Rosanna Monetta, Christoph Seiler, Louise C. Pyle, Emma C. Bedoukian, María José Sánchez-Soler, et al.
Pagina's: 1061 - 1076 - Low feasibility of in vitro matured oocytes originating from cumulus complexes found during ovarian tissue preparation at the moment of gender confirmation surgery and during testosterone treatment for fertility preservation in transgender men(2021)
Auteurs: Sylvie Lierman, Annelies Tolpe, Ilse De Croo, Stefanie De Gheselle, Justine Defreyne, Machteld Baetens, Annelies Dheedene, Roos Colman, Björn Menten, Guy T'Sjoen, et al.
Pagina's: 1068 - 1076