Pamela R. Pretorius, Ph.D.
Affiliations: | 2010 | Genetics | University of Iowa, Iowa City, IA |
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"Pamela Pretorius"Mean distance: 23748
Parents
Sign in to add mentor| Val C. Sheffield | grad student | 2010 | University of Iowa | |
| (Elucidating a role for BBS3 in syndromic and non-syndromic retinal disease.) | ||||
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| Pei W, Xu L, Varshney GK, et al. (2016) Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases. Scientific Reports. 6: 29946 |
| Duffy EA, Pretorius PR, Lerach S, et al. (2015) Mosaic partial deletion of PTPN12 in a child with interrupted aortic arch type A. American Journal of Medical Genetics. Part A. 167: 2674-83 |
| Wright KJ, Baye LM, Olivier-Mason A, et al. (2011) An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. Genes & Development. 25: 2347-60 |
| Pretorius PR, Aldahmesh MA, Alkuraya FS, et al. (2011) Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. Human Molecular Genetics. 20: 1625-32 |
| Pretorius PR, Baye LM, Nishimura DY, et al. (2010) Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform. Plos Genetics. 6: e1000884 |