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Author/Creator Ruddle, Jonathan B.

3. The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort. Issue 5 (5th March 2020)

Authors:
Siggs, Owen M.; Awadalla, Mona S.; Souzeau, Emmanuelle; Staffieri, Sandra E.; Kearns, Lisa S.; Laurie, Kate; Kuot, Abraham; Qassim, Ayub; Edwards, Thomas L.; Coote, Michael A.; Mancel, Erica; Walland, Mark J.; Dondey, Joanne; Galanopoulous, Anna; Casson, Robert J.; Mills, Richard A.; MacArthur, D...
Journal:
Clinical genetics
Issue:
Volume 97:Issue 5(2020)
Page Start:
764
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype–Phenotype Correlation and Functional Investigation of Cone Opsin Variants. Issue 11 (November 2014)

Authors:
Gardner, Jessica C.; Liew, Gerald; Quan, Ying‐Hua; Ermetal, Burcu; Ueyama, Hisao; Davidson, Alice E.; Schwarz, Nele; Kanuga, Naheed; Chana, Ravinder; Maher, Eamonn R.; Webster, Andrew R.; Holder, Graham E.; Robson, Anthony G.; Cheetham, Michael E.; Liebelt, Jan; Ruddle, Jonathan B.; Moore, Anthon...
Journal:
Human mutation
Issue:
Volume 35:Issue 11(2014:Nov.)
Page Start:
1354
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗