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Items where Author is "Pater, J"
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Number of items: 9.
Dimasi, DP, Hewitt, AW, Straga, T, Pater, J, MacKinnon, JR, Elder, JE, Casey, T, Mackey, DA and Craig, JE 2007
, 'Prevalence of CYP1B1 mutations in Australian patients with primary congenial glaucoma'
, Clinical Genetics, vol. 72, no. 3
, pp. 255-260
, doi: https://doi.org/10.1111/j.1399-0004.2007.00864.x.
Javadiyan, S, Craig, JE, Souzeau, E, Sharma, S, Lower, KM, Mackey, DA, Staffieri, SE, Elder, JE, Taranath, D, Straga, T, Black, J, Pater, J, Casey, T, Hewitt, AW ORCID: 0000-0002-5123-5999 and Burdon, KP ORCID: 0000-0001-8217-1249 2017
, 'High-throughput genetic screening of 51 pediatric cataract genes identifies causative mutations in inherited pediatric cataract in South Eastern Australia'
, G3: Genes, Genomes, Genetics, vol. 7, no. 10
, pp. 3257-3268
, doi: https://doi.org/10.1534/g3.117.300109.
Javadiyan, S, Craig, JE, Souzeau, E, Sharma, Shiwani, Lower, KM, Mackey, DA, Staffieri, SE, Elder, JE, Taranath, D, Straga, T, Black, J, Pater, J, Casey, T, Hewitt, AW ORCID: 0000-0002-5123-5999 and Burdon, KP ORCID: 0000-0001-8217-1249 2017
, 'High-throughput genetic screening of 51 pediatric cataract genes identifies causative mutations in inherited pediatric cataract in South Eastern Australia'
, G3: Genes, Genomes, Genetics, vol. 7, no. 10
, pp. 3257-3268
, doi: https://doi.org/10.1534/g3.117.300109.
Siggs, OM, Javadiyan, S, Sharma, S, Souzeau, E, Lower, KM, Taranath, DA, Black, J, Pater, J, Willoughby, JG, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2017
, 'Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract'
, European Journal of Human Genetics, vol. 25, no. 6
, pp. 711-718
, doi: https://doi.org/10.1038/ejhg.2017.33.
Siggs, OM, Javadiyan, S, Sharma, Shiwani, Souzeau, E, Lower, KM, Taranath, DA, Black, J, Pater, J, Willoughby, JG, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2017
, 'Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract'
, European Journal of Human Genetics, vol. 25, no. 6
, pp. 711-718
, doi: https://doi.org/10.1038/ejhg.2017.33.
Siggs, OM, Souzeau, E, Pasutto, F, Dubowsky, A, Smith, JEH, Taranath, D, Pater, J, Rait, JL, Narita, A, Mauri, L, Del Longo, A, Reis, A, Chappell, A, Kearns, LS, Staffieri, SE, Elder, JE, Ruddle, JB, Hewitt, AW ORCID: 0000-0002-5123-5999, Burdon, KP ORCID: 0000-0001-8217-1249, Mackey, DA and Craig, JE 2019
, 'Prevalence of FOXC1 variants in individuals with a suspected diagnosis of primary congenital glaucoma'
, JAMA Ophthalmology, no. Januar
, E1-E8
, doi: https://doi.org/10.1001/jamaophthalmol.2018.5646.
Siggs, OM, Souzeau, E, Taranath, DA, Dubowsky, A, Chappell, A, Zhou, T, Javadiyan, S, Nicholl, J, Kearns, LS, Staffieri, SE, Narita, A, Smith, JEH, Pater, J, Hewitt, AW ORCID: 0000-0002-5123-5999, Ruddle, JB, Elder, JE, Mackey, DA, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2020
, 'Biallelic CPAMD8 variants are a frequent cause of childhood and juvenile open-angle glaucoma'
, Ophthalmology, vol. 127, no. 6
, pp. 758-766
, doi: https://doi.org/10.1016/j.ophtha.2019.12.024.
Souzeau, E, Siggs, OM, Zhou, T, Galanopoulos, A, Hodson, T, Taranath, D, Mills, RA, Landers, J, Pater, J, Smith, JE, Elder, JE, Rait, JL, Giles, P, Phakey, V, Staffieri, SE, Kearns, LS, Dubowsky, A, Mackey, DA, Hewitt, AW ORCID: 0000-0002-5123-5999, Ruddle, JB, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2017
, 'Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants'
, European Journal of Human Genetics, vol. 25, no. 7
, pp. 839-847
, doi: https://doi.org/10.1038/ejhg.2017.59.
Souzeau, E, Siggs, OM, Zhou, T, Galanopoulos, A, Hodson, T, Taranath, D, Mills, RA, Landers, J, Pater, J, Smith, JE, Elder, JE, Rait, JL, Giles, P, Phakey, V, Staffieri, SE, Kearns, LS, Dubowsky, A, Mackey, DA, Hewitt, AW ORCID: 0000-0002-5123-5999, Ruddle, JB, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2017
, 'Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants'
, European Journal of Human Genetics, vol. 25, no. 7
, pp. 839-847
, doi: https://doi.org/10.1038/ejhg.2017.59.
This list was generated on Thu Jun 1 02:01:09 2023 AEST.