অনুসন্ধান ফলাফলগুলি - Jonathan B Ruddle

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

সম্পূর্ণ পাঠ পাওয়ার জন্য

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

সম্পূর্ণ পাঠ পাওয়ার জন্য

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

সম্পূর্ণ পাঠ পাওয়ার জন্য

Three-year outcomes of a multidisciplinary ocular genetics clinic: Diagnostic yield and workflow insights from an Australian tertiary center অনুযায়ী 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

সম্পূর্ণ পাঠ পাওয়ার জন্য

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

সম্পূর্ণ পাঠ পাওয়ার জন্য

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

সম্পূর্ণ পাঠ পাওয়ার জন্য

Pathogenic genetic variants identified in Australian families with paediatric cataract অনুযায়ী 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

সম্পূর্ণ পাঠ পাওয়ার জন্য

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness. অনুযায়ী 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

সম্পূর্ণ পাঠ পাওয়ার জন্য