Showing 1 - 5 results of 5 for search 'Jonathan B. Ruddle', query time: 0.08s
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Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey by Alexis Ceecee Britten-Jones, Joshua Schultz, Heather G. Mack, Lisa S. Kearns, Aamira J. Huq, Jonathan B. Ruddle, David A. Mackey, Alex W. Hewitt, Thomas L. Edwards, Lauren N. Ayton
Published 2024-03-01
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Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma by Haojie Fu, Owen M. Siggs, Lachlan S.W. Knight, Sandra E. Staffieri, Jonathan B. Ruddle, Amy E. Birsner, Edward Ryan Collantes, Jamie E. Craig, Janey L. Wiggs, Robert J. D’Amato
Published 2022-12-01
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Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons by Sueanne Chear, Sharn Perry, Richard Wilson, Aidan Bindoff, Jana Talbot, Tyson L. Ware, Alexandra Grubman, James C. Vickers, Alice Pébay, Jonathan B. Ruddle, Anna E. King, Alex W. Hewitt, Anthony L. Cook
Published 2022-12-01
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Pathogenic genetic variants identified in Australian families with paediatric cataract by David A Mackey, Emmanuelle Souzeau, Jamie E Craig, Jonathan B Ruddle, Bennet J McComish, Kathryn P Burdon, Jac C Charlesworth, Sandra E Staffieri, Johanna L Jones, Lisa S Kearns, James E Elder, Deepa Taranath, John Pater, Theresa Casey
Published 2022-10-01
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