المؤلفون: Khan, M., Cornelis, S.S., Khan, M.I., Elmelik, D., Manders, Eline, Bakker, Sem, Neveling, K., Gilissen, C.F., Dhaenens, C.M., Cremers, F.P.M.

المصدر: Human Mutation, 40, 10, pp. 1749-1759

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 0: Other Research RIHS: Radboud Institute for Health Sciences, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences

Relation: http://hdl.handle.net/2066/208474

الاتاحة: http://hdl.handle.net/2066/208474
https://doi.org/10.1002/humu.23787

المؤلفون: Khan, Mubeen, Cornelis, Stephanie S., Khan, Muhammad Imran, Elmelik, Duaa, Manders, Eline, Bakker, Sem, Derks, Ronny, Neveling, Kornelia, Van De Vorst, Maartje, Gilissen, Christian, Meunier, Isabelle, Defoort, Sabine, Puech, Bernard, Devos, Aurore, Schulz, Heidi L., Stohr, Heidi, Grassmann, Felix, Weber, Bernhard H. F., DHAENENS, Claire-Marie, Cremers, Frans P. M.

المساهمون: CHU Lille, Inserm, Université de Lille, Laboratoire Sciences Cognitives et Sciences Affectives - UMR 9193 SCALab

مصطلحات موضوعية: deep-intronic variants, ABCA4, next generation sequencing, smMIPs, Stargardt disease

Relation: Human mutation; Hum. Mutat.; http://hdl.handle.net/20.500.12210/40108

الاتاحة: https://hdl.handle.net/20.500.12210/40108