Resultados de procura - Jonathan B. Ruddle

Paediatric glaucoma in Stickler syndromes: a comprehensive review of prevalence, comorbidities and outcomes por Jonathan B Ruddle, Lauren Ayton, Abdullah Shahzad, Sena Ayse Gocuk, Rosie Claire Hewitt Dawkins

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Paediatric Presentations of Early-Onset Glaucoma and Stickler Syndrome: A Case Series por Sena A. Gocuk, Sujan A. Surendran, Rosie C.H. Dawkins, Lauren N. Ayton, Jonathan B. Ruddle

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Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey por 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

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Three-year outcomes of a multidisciplinary ocular genetics clinic: Diagnostic yield and workflow insights from an Australian tertiary center por Sujan A. Surendran, Sena A. Gocuk, Aamira J. Huq, Alex W. Hewitt, Thomas G. Campbell, Doron G. Hickey, Lisa Kearns, Joshua Schulz, Thomas L. Edwards, Jonathan B. Ruddle, Lauren N. Ayton

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Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma por 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

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Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons por 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

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Pathogenic genetic variants identified in Australian families with paediatric cataract por 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

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Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness. por Alice E Davidson, Sek-Shir Cheong, Pirro G Hysi, Cristina Venturini, Vincent Plagnol, Jonathan B Ruddle, Hala Ali, Nicole Carnt, Jessica C Gardner, Hala Hassan, Else Gade, Lisa Kearns, Anne Marie Jelsig, Marie Restori, Tom R Webb, David Laws, Michael Cosgrove, Jens M Hertz, Isabelle Russell-Eggitt, Daniela T Pilz, Christopher J Hammond, Stephen J Tuft, Alison J Hardcastle

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