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Items where Author is "Lower, KM"

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Number of items: 7.

Article

Javadiyan, S, Craig, JE, Sharma, S, Lower, KM, Casey, T, Haan, E, Souzeau, E and Burdon, KP ORCID: 0000-0001-8217-1249 2017 , 'Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)' , BMC Medical Genetics, vol. 18, no. 1 , pp. 1-6 , doi: https://doi.org/10.1186/s12881-017-0414-7.

Javadiyan, S, Craig, JE, Sharma, Shiwani, Lower, KM, Casey, T, Haan, E, Souzeau, E and Burdon, KP ORCID: 0000-0001-8217-1249 2017 , 'Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)' , BMC Medical Genetics, vol. 18, no. 1 , pp. 1-6 , doi: https://doi.org/10.1186/s12881-017-0414-7.

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.

Javadiyan, S, Lucas, SEM ORCID: 0000-0003-0104-5406, Wangmo, D, Ngy, M, Edussuriya, K, Craig, JE, Rudkin, A, Casson, R, Selva, D, Sharma, Shiwani, Lower, KM, Meucke, J and Burdon, KP ORCID: 0000-0001-8217-1249 2018 , 'Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka' , Molecular Genetics & Genomic Medicine , pp. 1-10 , doi: https://doi.org/10.1002/mgg3.406.

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.

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