Researcher
Bettina Blaumeiser
- Keywords:Medicine
- Disciplines:Family planning, Foetal development, Obstetrics, Reproductive medicine, Genetics
Affiliations
- Medical Genetics (MEDGEN) (Research group)
Member
From1 Oct 2022 → Today - Medical Genetics (MEDGEN) (Research group)
Member
From1 Feb 2016 → 30 Sep 2022 - Medical Genetics (MEDGEN) (Research group)
Member
From1 Oct 2010 → 31 Jan 2016 - Medical Genetics (MEDGEN) (Research group)
Member
From1 Jan 2006 → 30 Sep 2010
Projects
1 - 1 of 1
- Subsidy to the Human Heredity Centers.From1 Jan 2008 → 31 Dec 2011Funding: Department Welfare, Public Health and Culture
Publications
1 - 10 of 40
- Population screening for 15q11-q13 duplications(2024)
Authors: Ilse Parijs, Nathalie Brison, Leen Vancoillie, Machteld Baetens, Bettina Blaumeiser, Sebastien Boulanger, Julie Desir, Boyan Dimitrov, Nathalie Fieremans, Katrien Janssens, et al.
Pages: 31 - 36 - Implementation of exome sequencing in prenatal diagnostics(2023)
Authors: Ewa Janicki, Colombine Meunier, Nele Boeckx, Bettina Blaumeiser, Katrien Janssens
Pages: 1 - 11 - Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development(2023)
Authors: Brecht Guillemyn, Hanna De Saffel, Jan Willem Bek, Piyanoot Tapaneeyaphan, Adelbert De Clercq, Tamara Jarayseh, Sophie Debaenst, Andy Willaert, Riet De Rycke, Peter H. Byers, et al.
Pages: 1718 - 1730 - 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 - 363 - 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: 465 - 467 - Assessment of the genetic spectrum of uncombable hair syndrome in a cohort of 107 individuals(2022)
Authors: F. Buket Basmanav, Nicole Cesarato, Sheetal Kumar, Oleg Borisov, Pavlos Kokordelis, Damian J. Ralser, Maria Wehner, Daisy Axt, Xing Xiong, Holger Thiele, et al.
Pages: 1245 - 1253 - ESO-ESSO-ESTRO multidisciplinary course in oncology for medical students(2022)
Authors: Nicholas Pavlidis, Radoslaw Madry, Marc Peeters, Sergio Sandrucci, Janina Markowska, Fedro Peccatori, Alberto Costa, Jesper Grau Eriksen, Umberto Ricardi, Richard Poetter, et al.
Pages: 1239 - 1244 - Additional causal SNRPE mutations in hereditary hypotrichosis simplex(2021)
Authors: C. Pan, A. Humbatova, L. Zheng, N. Cesarato, C. Grimm, F. Chen, Bettina Blaumeiser, A. Catalan-Lamban, A. Patino-Garcia, U. Fischer, et al.
Pages: 439 - 441 - Difference in procedure-related risk of miscarriage between early and mid-trimester amniocentesis(2021)
Authors: Kelly Steinfort, Ellen Van Houtven, Yves Jacquemyn, Bettina Blaumeiser, Philip Loquet
- Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly(2021)
Authors: Sarah Duerinckx, Julie Desir, Camille Perazzolo, Cindy Badoer, Valerie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, et al.