Background 17q12 microdeletion and microduplication syndromes present as overlapping, multisystem disorders. We assessed the disease phenotypes of individuals with 17q12 CNV in a population-based ...
Background GGC repeat expansion in NOTCH2NLC has been recently linked to neuronal intranuclear inclusion disease (NIID) via unknown disease mechanisms. Herein, we explore the genetic origin of the ...
9 Tel Aviv University Sackler Faculty of Medicine, Tel Aviv, Israel 10 Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel Background Constitutional mismatch repair deficiency syndrome ...
Department of Neurology, School of Neurosciences and Psychiatry, The Medical School, University of Newcastle Upon Tyne, UK Correspondence to: Dr P F Chinnery, Department of Neurology, School of ...
1 Division of Respirology, Department of Medicine, St Michael's Hospital, University of Toronto, Toronto, Ontario, Canada 2 Li Ka Shing Knowledge Institute, St Michael's Hospital, University of ...
1 Paediatric Neurology Unit, Sheba Medical Centre, Ramat-Gan, Israel 2 Neuroradiology Unit, Sheba Medical Centre, Ramat-Gan, Israel 3 Metabolic-Neurogenetic Clinic, Paediatric Neurology Unit, Wolfson ...
1 MD/PhD and Experimental Medicine Programs, University of British Columbia and the British Columbia Research Institute for Children’s and Women’s Health, Vancouver, British Columbia, Canada 2 ...
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