Hasil Pencarian - Jonathan B Ruddle

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  1. 1
    Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion

    Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion oleh Emmanuelle Souzeau, Andrew Dubowsky, Jonathan B. Ruddle, Jamie E. Craig

    Diterbitkan 2019-08-01
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  2. 2
    A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy

    A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy oleh Valentina Baderna, Joshua Schultz, Lisa S. Kearns, Michael Fahey, Bryony A. Thompson, Jonathan B. Ruddle, Aamira Huq, Francesca Maltecca

    Diterbitkan 2020-06-01
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  3. 3
    Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey

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

    Diterbitkan 2024-03-01
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  4. 4
    Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma

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

    Diterbitkan 2022-12-01
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  5. 5
    Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons

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

    Diterbitkan 2022-12-01
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  6. 6
    Pathogenic genetic variants identified in Australian families with paediatric cataract

    Pathogenic genetic variants identified in Australian families with paediatric cataract oleh 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

    Diterbitkan 2022-10-01
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  7. 7
    Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma.

    Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma. oleh Tiger Zhou, Emmanuelle Souzeau, Shiwani Sharma, John Landers, Richard Mills, Ivan Goldberg, Paul R Healey, Stuart Graham, Alex W Hewitt, David A Mackey, Anna Galanopoulos, Robert J Casson, Jonathan B Ruddle, Jonathan Ellis, Paul Leo, Matthew A Brown, Stuart MacGregor, David J Lynn, Kathryn P Burdon, Jamie E Craig

    Diterbitkan 2017-01-01
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  8. 8
    Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.

    Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. oleh Yi Lu, David P Dimasi, Pirro G Hysi, Alex W Hewitt, Kathryn P Burdon, Tze'Yo Toh, Jonathan B Ruddle, Yi Ju Li, Paul Mitchell, Paul R Healey, Grant W Montgomery, Narelle Hansell, Timothy D Spector, Nicholas G Martin, Terri L Young, Christopher J Hammond, Stuart Macgregor, Jamie E Craig, David A Mackey

    Diterbitkan 2010-05-01
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  9. 9
    Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.

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

    Diterbitkan 2014-01-01
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  10. 10
    Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.

    Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma. oleh Naushin H Waseem, Sancy Low, Amna Z Shah, Deepa Avisetti, Pia Ostergaard, Michael Simpson, Katarzyna A Niemiec, Belen Martin-Martin, Hebah Aldehlawi, Saima Usman, Pak Sang Lee, Anthony P Khawaja, Jonathan B Ruddle, Ameet Shah, Ege Sackey, Alexander Day, Yuzhen Jiang, Geoff Swinfield, Ananth Viswanathan, Giovanna Alfano, Christina Chakarova, Heather J Cordell, David F Garway-Heath, Peng T Khaw, Shomi S Bhattacharya, Ahmad Waseem, Paul J Foster

    Diterbitkan 2020-04-01
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