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: keyword exact "variants" cql: author exact 801000441207 or (type exact bookEditor and editor exact 801000441207) Add to list Journal Article A1 open access Clinical implementation of RNA sequencing for Mendelian disease diagnostics Vincente A Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H Smith, Charlotte L Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, et al. (2022) GENOME MEDICINE. 14(1). Add to list Journal Article A1 open access POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism Lionel Van Maldergem, Arnaud Besse, Boel De Paepe (UGent) , Emma L Blakely, Vivek Appadurai, Margaret M Humble, Juliette Piard, Kate Craig, Langping He, Pierre Hella, et al. (2017) ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY. 4(1). p.4-14 Add to list Journal Article A1 A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum Cas Simons, Nicole I Wolf, Nathan McNeil, Ljubica Caldovic, Joseph M Devaney, Asako Takanohashi, Joanna Crawford, Kelin Ru, Sean M Grimmond, David Miller, et al. (2013) AMERICAN JOURNAL OF HUMAN GENETICS. 92(5). p.767-773 Add to list Journal Article A1 Palatal insufficiency as isolated sign of GQ1b antibody syndrome Helene Verhelst (UGent) , MICHAELA MAES (UGent) , Karel Deblaere (UGent) and Rudy Van Coster (UGent) (2011) PEDIATRIC NEUROLOGY. 44(4). p.292-294