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Author/Creator Farnsworth, Elizabeth

1. Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. (July 2018)

Authors:
Kothur, Kavitha; Holman, Katherine; Farnsworth, Elizabeth; Ho, Gladys; Lorentzos, Michelle; Troedson, Christopher; Gupta, Sachin; Webster, Richard; Procopis, Peter G.; Menezes, Manoj P.; Antony, Jayne; Ardern-Holmes, Simone; Dale, Russell C.; Christodoulou, John; Gill, Deepak; Bennetts, Bruce
Journal:
Seizure
Issue:
Volume 59(2018)
Page Start:
132
Record Type:
Journal Article
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2. Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells. (13th December 2021)

Authors:
Nash, Benjamin M.; Loi, To Ha; Fernando, Milan; Sabri, Amin; Robinson, James; Cheng, Anson; Eamegdool, Steven S.; Farnsworth, Elizabeth; Bennetts, Bruce; Grigg, John R.; Chung, Seo-Kyung; Gonzalez-Cordero, Anai; Jamieson, Robyn V.
Other Names:
Hayashi Yohei Academic Editor.
Journal:
Stem cells international
Issue:
Volume 2021(2021)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Genome sequencing in congenital cataracts improves diagnostic yield. Issue 9 (15th June 2021)

Authors:
Ma, Alan; Grigg, John R.; Flaherty, Maree; Smith, James; Minoche, Andre E.; Cowley, Mark J.; Nash, Benjamin M.; Ho, Gladys; Gayagay, Thet; Lai, Tiffany; Farnsworth, Elizabeth; Hackett, Emma L.; Slater, Katrina; Wong, Karen; Holman, Katherine J.; Jenkins, Gemma; Cheng, Anson; Martin, Frank; Brown,...
Journal:
Human mutation
Issue:
Volume 42:Issue 9(2021)
Page Start:
1173
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing. Issue 4 (14th January 2016)

Authors:
Ma, Alan S.; Grigg, John R.; Ho, Gladys; Prokudin, Ivan; Farnsworth, Elizabeth; Holman, Katherine; Cheng, Anson; Billson, Frank A.; Martin, Frank; Fraser, Clare; Mowat, David; Smith, James; Christodoulou, John; Flaherty, Maree; Bennetts, Bruce; Jamieson, Robyn V.
Journal:
Human mutation
Issue:
Volume 37:Issue 4(2016)
Page Start:
371
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗