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Items where Author is "Dubowsky, A"
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Number of items: 5.
Article
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.
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.
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, Rudkin, AK, Dubowsky, A, Casson, RJ, Muecke, JS, Mancel, E, Whiting, M, Mills, RAD, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2018
, 'PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia'
, Molecular Vision, vol. 24
, pp. 261-273
.
ORCID: 0000-0001-8217-1249 and Craig, JE 2018
, 'PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia'
, Molecular Vision, vol. 24
, pp. 261-273
.
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.
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.
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.