- Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern(2016)
Auteurs: Nathalie Fieremans, Hilde Van Esch, Maureen Holvoet, Gert Van Goethem, Koenraad Devriendt, Monica Rosello, Sonia Mayo, Francisco Camacho-Martinez, Shalini N Jhangiani, Donna M. Muzny, et al.
Pagina's: 804-11
- CDC73-Related Disorders(2017)
Auteurs: Karin van der Tuin, Carli M J Tops, Muriel A Adank, Jan-Maarten Cobben, Neveen A T Hamdy, Marjolijn C Jongmans, Fred H Menko, Bernadette M P van Nesselrooij, Romana T Netea-Maier, Jan C Oosterwijk, et al.
Pagina's: 4534-4540
- High Growth Rate of Pancreatic Ductal Adenocarcinoma in CDKN2A-p16-Leiden Mutation Carriers(2018)
Auteurs: Isaura S Ibrahim, Martin N Wasser, Yinghui Wu, Akin Inderson, Wouter H de Vos Tot Nederveen Cappel, Hans Morreau, Frederik Jan Hes, Roeland A Veenendaal, Hein Putter, Shirin Feshtali, et al.
Pagina's: 551-556
- Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies(2022)
Auteurs: Miriam S. Reuter, Michael Zech, Maja Hempel, Janine Altmüller, Tracy Heung, Laura Pölsler, René Santer, Holger Thiele, Brett Trost, Christian Kubisch, et al.
Pagina's: 611-618
- 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, Cindy Melotte, Kris Van den Bogaert, Masoud Zamani Esteki, Jia Ding, Thiery Voet, Ellen Denayer, et al.
Pagina's: 2302-2311
- Cancer Risks for PMS2-Associated Lynch Syndrome(2018)
Auteurs: Sanne W Ten Broeke, Heleen M van der Klift, Carli M J Tops, Stefan Aretz, Inge Bernstein, Daniel D Buchanan, Albert De La Chapelle, Gabriel Capella, Mark Clendenning, Christoph Engel, et al.
Pagina's: 2961-2968
- Targetable Gene Fusions Identified in Radioactive Iodine-Refractory Advanced Thyroid Carcinoma(2019)
Auteurs: Karin van der Tuin, Marina Ventayol, Willem Corver, Midia Khalifa, Dina Ruano, Eleonora P M Corssmit, Frederik Jan Hes, Thera P Links, Jan Smit, Theo S Plantinga, et al.
Pagina's: 235-241
- Parent-of-origin tumourigenesis is mediated by an essential imprinted modifier in SDHD-linked paragangliomas(2016)
Auteurs: Attje S Hoekstra, Ruben D Addie, Cor Ras, Reza M Seifar, Claudia A Ruivenkamp, Inge H Briaire-de Bruijn, Frederik Jan Hes, Jeroen C Jansen, Eleonora P M Corssmit, Willem E Corver, et al.
Pagina's: 3715-3728
- Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening(2019)
Auteurs: Nathalie Brison, Jazz Storms, Darine Villela, Kristl G Claeys, Luc Dehaspe, Thomy de Ravel, Liesbeth De Waele, Nathalie Goemans, Eric Legius, Hilde Peeters, et al.
Pagina's: 2774-2780
- Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients(2016)
Auteurs: Anne M L Jansen, Marije A Geilenkirchen, Tom van Wezel, Shantie C Jagmohan-Changur, Dina Ruano, Heleen M van der Klift, Brendy E W M van den Akker, Jeroen F J Laros, Michiel van Galen, Anja Wagner, et al.
