Show 10 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author exact F8FBA0DA-F0ED-11E1-A9DE-61C894A0A6B4 or (type any "bookEditor issueEditor" and edito... cql: keyword exact "gene" Add to list Journal Article A1 Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants Eva Jacobs, Kathleen Brown, Melissa C. Byler, Erika D'haenens (UGent) , Annelies Dheedene (UGent) , Lindsay B. Henderson, Jennifer B. Humberson, Richard H. Jaarsveld, Farah Kanani, Robert Roger Lebel, et al. (2021) CLINICAL GENETICS. 99(2). p.259-268 Add to list Journal Article A1 FOXP1-related intellectual disability syndrome : a recognisable entity Ilse Meerschaut (UGent) , Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A Rouleau, Fadi F Hamdan, Jacques L Michaud, Jenny Morton, Jessica Radley, et al. (2017) JOURNAL OF MEDICAL GENETICS. 54(9). p.613-623 Add to list Journal Article A1 Redefining the MED13L syndrome Abidemi Adegbola, Luciana Musante, Bert Callewaert (UGent) , Patricia Maciel, Hao Hu, Bertrand Isidor, Sylvie Picker-Minh, Cedric Le Caignec, Barbara Delle Chiaie, Olivier Vanakker (UGent) , et al. (2015) EUROPEAN JOURNAL OF HUMAN GENETICS. 23(10). p.1308-1317 Add to list Journal Article A1 Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges Olivier Vanakker (UGent) , Catheline Vilain, Katrien Janssens, Nathalie Van der Aa, Guillaume Smits, Claude Bandelier, Bettina Blaumeiser, Saskia Bulk, Jean-Hubert Caberg, Anne De Leener, et al. (2014) EUROPEAN JOURNAL OF MEDICAL GENETICS. 57(4). p.151-156 Add to list Journal Article A1 A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment Isabelle Schrauwen, Sarah Helfmann, Akira Inagaki, Friederike Predoehl, Mohammad Amin Tabatabaiefar, Maria Magdalena Picher, Manou Sommen, Celia Zazo Seco, Jaap Oostrik, Hannie Kremer, et al. (2012) AMERICAN JOURNAL OF HUMAN GENETICS. 91(4). p.636-645