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Alpha One Foundation Athlone Institute of Technology Beaumont Hospital Cystinosis Foundation Ireland DCU Department of Agriculture, Food and Marine Dublin City University Dublin Dental University Hospital Dublin Institute of Technology Economic and Social Research Institute Fighting Blindness Fondazione Telethon Fraunhofer ITMP Health Information and Quality Authority Health Research Charities Ireland HSE - Letterkenny General Hospital HSE - Midland Regional Hospital at Tullamore HSE - St. Luke's Hospital (Rathgar) Institute of Technology Sligo IPPOSI Irish Blood Transfusion Service, National Blood Centre Irish Cancer Society Irish Clinical Oncology Research Group Ltd Irish Platform for Patients Organisations Science and Industry Irish Platform for Patients' Organisations, Science and Industry Irish Platform for Patients' Organisations, Science and Industry Ltd Irish Platform for Patients’ Organisations, Science and Industry Irish Thoracic Society Katholieke Universiteit Leuven Limerick Institute of Technology Mary Immaculate College Limerick Maynooth University Medical Research Charities Group Ltd Molecular Medicine Ireland National Rehabilitation Hospital National Suicide Research Foundation National University of Ireland Galway National University of Ireland, Galway National University of Ireland, Maynooth Our Lady's Hospice RCSI Royal College of Physicians of Ireland Royal College of Surgeons in Ireland Royal Victoria Eye and Ear Hospital Research Foundation Ltd St John of God's Research Foundation Limited St. James's Hospital TCD Teagasc Technological University Dublin The Alzheimer Society of Ireland The Children's Hospital of Philadelphia The Children's Medical and Research Foundation Trinity College Dublin UCD University College Cork University College Dublin University Hospitals Leuven & KU Leuven University of Auckland University of California San Francisco University of Cambridge University of Galway University of Limerick University of Oxford
Neurodevelopmental ciliopathies: a multimodel approach from molecular mechanisms to patients variant interpretation and treatment strategies "NDCil"
Nervous system malformation and neurodevelopmental defects (ND) are common hallmark features of genetically inherited diseases called ciliopathies. All ciliopathies are caused by abnormalities in tiny hair-like extensions called primary cilia (Cil), which are found on the surface of most cell types, including neuronal and glial cells....
Health care decisions should be based on the combination of the full amount of information that is available rather than relying on the convenient selection of one or more individual pieces of information, or studies. Evidence synthesis methods seek to establish the overall balance of information on a given topic, and are based on...