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Author/Creator Doheny, Dana

1. Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. Issue 11 (5th September 2016)

Authors:
Chen, Brenden; Solis‐Villa, Constanza; Hakenberg, Jörg; Qiao, Wanqiong; Srinivasan, Ramakrishnan R.; Yasuda, Makiko; Balwani, Manisha; Doheny, Dana; Peter, Inga; Chen, Rong; Desnick, Robert J.
Journal:
Human mutation
Issue:
Volume 37:Issue 11(2016)
Page Start:
1215
Record Type:
Journal Article
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2. Evolution of cardiac pathology in classic Fabry disease: Progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophy‬‬‬‬‬‬‬‬. (1st December 2017)

Authors:
Frustaci, Andrea; Chimenti, Cristina; Doheny, Dana; Desnick, Robert J.
Journal:
International journal of cardiology
Issue:
Volume 248(2017)
Page Start:
257
Record Type:
Journal Article
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3. Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995–2017. Issue 4 (12th January 2018)

Authors:
Doheny, Dana; Srinivasan, Ram; Pagant, Silvere; Chen, Brenden; Yasuda, Makiko; Desnick, Robert J
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 4(2018)
Page Start:
261
Record Type:
Journal Article
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